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nord_28_4 | Related disorders of Acute Eosinophilic Pneumonia | Symptoms of the following disorders can be similar to those of AEP. Comparisons may be useful for a differential diagnosis.Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes cal... | Related disorders of Acute Eosinophilic Pneumonia. Symptoms of the following disorders can be similar to those of AEP. Comparisons may be useful for a differential diagnosis.Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result... | 28 | Acute Eosinophilic Pneumonia |
nord_28_5 | Diagnosis of Acute Eosinophilic Pneumonia | A diagnosis of AEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests especially bronchoalveolar lavage (BAL). The presence of other causes of pulmonary eosinophilia such as parasitic infections or exposure to certain d... | Diagnosis of Acute Eosinophilic Pneumonia. A diagnosis of AEP is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests especially bronchoalveolar lavage (BAL). The presence of other causes of pulmonary eosinophilia such as pa... | 28 | Acute Eosinophilic Pneumonia |
nord_28_6 | Therapies of Acute Eosinophilic Pneumonia | Treatment
Individuals with AEP respond within days to high doses of corticosteroids, which usually are prescribed for two weeks. Corticosteroid therapy is initiated only after an infectious cause of pulmonary eosinophilia has been ruled out. Within the medical literature, the dose and duration of corticosteroid therapy... | Therapies of Acute Eosinophilic Pneumonia. Treatment
Individuals with AEP respond within days to high doses of corticosteroids, which usually are prescribed for two weeks. Corticosteroid therapy is initiated only after an infectious cause of pulmonary eosinophilia has been ruled out. Within the medical literature, the ... | 28 | Acute Eosinophilic Pneumonia |
nord_29_0 | Overview of Acute Intermittent Porphyria | SummaryAcute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors in the body. This enzyme deficiency is ca... | Overview of Acute Intermittent Porphyria. SummaryAcute intermittent porphyria (AIP) is a rare metabolic disorder that is characterized by partial deficiency of the enzyme hydroxymethylbilane synthase (also known as porphobilinogen deaminase). This enzyme deficiency can result in the accumulation of porphyrin precursors... | 29 | Acute Intermittent Porphyria |
nord_29_1 | Symptoms of Acute Intermittent Porphyria | AIP can be associated with a range of symptoms and physical findings that can potentially involve multiple organ systems of the body. The course and severity of attacks is highly variable from one person to another. In some cases, particularly those without proper diagnosis and treatment, the disorder can potentially c... | Symptoms of Acute Intermittent Porphyria. AIP can be associated with a range of symptoms and physical findings that can potentially involve multiple organ systems of the body. The course and severity of attacks is highly variable from one person to another. In some cases, particularly those without proper diagnosis and... | 29 | Acute Intermittent Porphyria |
nord_29_2 | Causes of Acute Intermittent Porphyria | AIP is a multifactorial disorder, which means that several different factors such as genetic and environmental factors occurring in combination are necessary for developing symptoms of the disorder. Individuals with AIP have a mutation in the HMBS gene. Genes provide instructions for creating proteins that play a criti... | Causes of Acute Intermittent Porphyria. AIP is a multifactorial disorder, which means that several different factors such as genetic and environmental factors occurring in combination are necessary for developing symptoms of the disorder. Individuals with AIP have a mutation in the HMBS gene. Genes provide instructions... | 29 | Acute Intermittent Porphyria |
nord_29_3 | Affects of Acute Intermittent Porphyria | In Europe the prevalence of symptomatic AIP is reported to be 5.9 per million people in the general population., It is likely to be similar elsewhere in the world apart from Sweden where it is higher due to a founder effect. Recent population based genetic studies have shown that approximately 1 in 2000 of the populati... | Affects of Acute Intermittent Porphyria. In Europe the prevalence of symptomatic AIP is reported to be 5.9 per million people in the general population., It is likely to be similar elsewhere in the world apart from Sweden where it is higher due to a founder effect. Recent population based genetic studies have shown tha... | 29 | Acute Intermittent Porphyria |
nord_29_4 | Related disorders of Acute Intermittent Porphyria | Symptoms of the following disorders can be similar to those of AIP. Comparisons may be useful for a differential diagnosis.The acute attacks that characterize AIP are similar to those seen in three other forms of porphyria specifically variegate porphyria, hereditary coproporphyria, and ALA-Dehydratase deficiency porph... | Related disorders of Acute Intermittent Porphyria. Symptoms of the following disorders can be similar to those of AIP. Comparisons may be useful for a differential diagnosis.The acute attacks that characterize AIP are similar to those seen in three other forms of porphyria specifically variegate porphyria, hereditary c... | 29 | Acute Intermittent Porphyria |
nord_29_5 | Diagnosis of Acute Intermittent Porphyria | A diagnosis of AIP can be difficult because most symptoms are nonspecific and occur episodically. A diagnosis is usually based upon identification of characteristic symptoms from a detailed patient history, a thorough clinical evaluation and certain specialized tests. AIP should be suspected in individuals with unexpla... | Diagnosis of Acute Intermittent Porphyria. A diagnosis of AIP can be difficult because most symptoms are nonspecific and occur episodically. A diagnosis is usually based upon identification of characteristic symptoms from a detailed patient history, a thorough clinical evaluation and certain specialized tests. AIP shou... | 29 | Acute Intermittent Porphyria |
nord_29_6 | Therapies of Acute Intermittent Porphyria | TreatmentThe treatment of AIP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, hematologists, hepatologists, psychiatrists, and other healthcare professionals may need to systematically and... | Therapies of Acute Intermittent Porphyria. TreatmentThe treatment of AIP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, neurologists, hematologists, hepatologists, psychiatrists, and other healthcare p... | 29 | Acute Intermittent Porphyria |
nord_30_0 | Overview of Acute Myeloid Leukemia | SummaryAcute myeloid leukemia (AML) is a group of blood and bone marrow cancers. This disorder is characterized by incomplete maturation of blood cells and reduced production of other normal hematopoietic stem cells. Hematopoietic stem cells are specialized cells that are formed in the bone marrow, the soft, spongy mat... | Overview of Acute Myeloid Leukemia. SummaryAcute myeloid leukemia (AML) is a group of blood and bone marrow cancers. This disorder is characterized by incomplete maturation of blood cells and reduced production of other normal hematopoietic stem cells. Hematopoietic stem cells are specialized cells that are formed in t... | 30 | Acute Myeloid Leukemia |
nord_30_1 | Symptoms of Acute Myeloid Leukemia | Some symptoms of acute myeloid leukemia result from disruption of the normal formation of blood cells. There are three main types of blood cells – red blood cells, white blood cells, and platelets. These cells are formed in the bone marrow and they arise from hematopoietic stem cells, a type of adult stem cell. In AML,... | Symptoms of Acute Myeloid Leukemia. Some symptoms of acute myeloid leukemia result from disruption of the normal formation of blood cells. There are three main types of blood cells – red blood cells, white blood cells, and platelets. These cells are formed in the bone marrow and they arise from hematopoietic stem cells... | 30 | Acute Myeloid Leukemia |
nord_30_2 | Causes of Acute Myeloid Leukemia | Leukemias are clonal disorders, which means that cancer arises from a change in one original cell. In AML, this occurs in a hematopoietic stem cell, specifically a myeloblast. A myeloblast is an immature precursor cell found in the bone marrow. This means that a myeloblast will change (mature or differentiate) into a h... | Causes of Acute Myeloid Leukemia. Leukemias are clonal disorders, which means that cancer arises from a change in one original cell. In AML, this occurs in a hematopoietic stem cell, specifically a myeloblast. A myeloblast is an immature precursor cell found in the bone marrow. This means that a myeloblast will change ... | 30 | Acute Myeloid Leukemia |
nord_30_3 | Affects of Acute Myeloid Leukemia | Acute myeloid leukemia is the most common form of acute leukemia in adults, making up about 80% of people with acute leukemia. In the United States, it is estimated that 3-5 people per every 100,000 people in the general population has the disease. More than half the people diagnosed with AML are 65 years of age or old... | Affects of Acute Myeloid Leukemia. Acute myeloid leukemia is the most common form of acute leukemia in adults, making up about 80% of people with acute leukemia. In the United States, it is estimated that 3-5 people per every 100,000 people in the general population has the disease. More than half the people diagnosed ... | 30 | Acute Myeloid Leukemia |
nord_30_4 | Related disorders of Acute Myeloid Leukemia | Symptoms of the following disorders can be similar to those of acute myeloid leukemia. Comparisons may be useful for a differential diagnosis.Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia. APL accounts for about 10%-15% of people with AML. It occurs in younger people more than other... | Related disorders of Acute Myeloid Leukemia. Symptoms of the following disorders can be similar to those of acute myeloid leukemia. Comparisons may be useful for a differential diagnosis.Acute promyelocytic leukemia (APL) is a specific subtype of acute myeloid leukemia. APL accounts for about 10%-15% of people with AML... | 30 | Acute Myeloid Leukemia |
nord_30_5 | Diagnosis of Acute Myeloid Leukemia | A diagnosis of acute myeloid leukemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. During a complete physical examination, physicians may feel (i.e., palpate) the lymph nodes in certain regions to detect any swel... | Diagnosis of Acute Myeloid Leukemia. A diagnosis of acute myeloid leukemia is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. During a complete physical examination, physicians may feel (i.e., palpate) the lymph nodes ... | 30 | Acute Myeloid Leukemia |
nord_30_6 | Therapies of Acute Myeloid Leukemia | Treatment
The diagnosis and therapeutic management of acute myeloid leukemia may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), disorders of the blood and blood-forming tissues (hematologists), or the ... | Therapies of Acute Myeloid Leukemia. Treatment
The diagnosis and therapeutic management of acute myeloid leukemia may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), disorders of the blood and blood-for... | 30 | Acute Myeloid Leukemia |
nord_31_0 | Overview of Acute Promyelocytic Leukemia | SummaryAcute promyelocytic leukemia (APL) is a blood cancer characterized by a marked increase in a type of immature white blood cells known as promyelocytes. It develops in about 600 to 800 individuals each year in the United States, most often in adults around the age of 40 but also in children. The characteristic sy... | Overview of Acute Promyelocytic Leukemia. SummaryAcute promyelocytic leukemia (APL) is a blood cancer characterized by a marked increase in a type of immature white blood cells known as promyelocytes. It develops in about 600 to 800 individuals each year in the United States, most often in adults around the age of 40 b... | 31 | Acute Promyelocytic Leukemia |
nord_31_1 | Symptoms of Acute Promyelocytic Leukemia | APL most commonly occurs in middle-aged individuals. The median age at diagnosis is around 40 years, meaning that half of cases occur in people under that age and the other half in people above that age. In APL, the bone marrow is overcrowded with malignant cells and eventually fails to produce normal blood cells requi... | Symptoms of Acute Promyelocytic Leukemia. APL most commonly occurs in middle-aged individuals. The median age at diagnosis is around 40 years, meaning that half of cases occur in people under that age and the other half in people above that age. In APL, the bone marrow is overcrowded with malignant cells and eventually... | 31 | Acute Promyelocytic Leukemia |
nord_31_2 | Causes of Acute Promyelocytic Leukemia | APL is caused by the uncontrolled proliferation of promyelocytes, a type of immature cell from the myeloid lineage of blood cells. The hallmark of APL is genetic alterations involving the retinoic acid receptor alpha (RARA) gene. Retinoic acid (a derivative of vitamin A) is critical in the process of cellular maturatio... | Causes of Acute Promyelocytic Leukemia. APL is caused by the uncontrolled proliferation of promyelocytes, a type of immature cell from the myeloid lineage of blood cells. The hallmark of APL is genetic alterations involving the retinoic acid receptor alpha (RARA) gene. Retinoic acid (a derivative of vitamin A) is criti... | 31 | Acute Promyelocytic Leukemia |
nord_31_3 | Affects of Acute Promyelocytic Leukemia | APL comprises 5 to 10% of all cases of adult acute myeloid leukemia. Each year in the United States, it develops in around 2.2 people per million, for a total of 600 to 800 individuals. Although APL can occur at any age, middle-aged adults are most commonly affected; the median age at diagnosis is around 40. Epidemiolo... | Affects of Acute Promyelocytic Leukemia. APL comprises 5 to 10% of all cases of adult acute myeloid leukemia. Each year in the United States, it develops in around 2.2 people per million, for a total of 600 to 800 individuals. Although APL can occur at any age, middle-aged adults are most commonly affected; the median ... | 31 | Acute Promyelocytic Leukemia |
nord_31_4 | Related disorders of Acute Promyelocytic Leukemia | The symptoms of APL are often nonspecific and difficult to recognize. The following disorders are among those that most commonly present with symptoms resembling those of APL. Comparisons may be useful for a differential diagnosis.Multiple types of leukemia exist, depending on the characteristic of the affected cells. ... | Related disorders of Acute Promyelocytic Leukemia. The symptoms of APL are often nonspecific and difficult to recognize. The following disorders are among those that most commonly present with symptoms resembling those of APL. Comparisons may be useful for a differential diagnosis.Multiple types of leukemia exist, depe... | 31 | Acute Promyelocytic Leukemia |
nord_31_5 | Diagnosis of Acute Promyelocytic Leukemia | The diagnosis of APL is based on a combination of patient history, physical examination and numerous laboratory tests. In cases where patients present with symptoms such as fever, fatigue and bruising or bleeding, a complete blood count (CBC) is usually performed to evaluate the number of red blood cells (erythrocytes)... | Diagnosis of Acute Promyelocytic Leukemia. The diagnosis of APL is based on a combination of patient history, physical examination and numerous laboratory tests. In cases where patients present with symptoms such as fever, fatigue and bruising or bleeding, a complete blood count (CBC) is usually performed to evaluate t... | 31 | Acute Promyelocytic Leukemia |
nord_31_6 | Therapies of Acute Promyelocytic Leukemia | Treatment & Management
The treatment of APL is centered on all-trans retinoic acid (ATRA; tretinoin). The goal of this targeted therapy is to allow the differentiation of promyelocytes, which have been blocked by the PML/RARA fusion gene, into mature neutrophils. The treatment course is constituted of three phases:... | Therapies of Acute Promyelocytic Leukemia. Treatment & Management
The treatment of APL is centered on all-trans retinoic acid (ATRA; tretinoin). The goal of this targeted therapy is to allow the differentiation of promyelocytes, which have been blocked by the PML/RARA fusion gene, into mature neutrophils. The treat... | 31 | Acute Promyelocytic Leukemia |
nord_32_0 | Overview of Acute Respiratory Distress Syndrome | Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes called adult respiratory distress syndrome, it may also affect children. ARDS is a buildup of fluid in the small air sacs (alv... | Overview of Acute Respiratory Distress Syndrome. Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes called adult respiratory distress syndrome, it may also affect children. ARDS... | 32 | Acute Respiratory Distress Syndrome |
nord_32_1 | Symptoms of Acute Respiratory Distress Syndrome | Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli) and surrounding small blood vessels. The damaged... | Symptoms of Acute Respiratory Distress Syndrome. Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli)... | 32 | Acute Respiratory Distress Syndrome |
nord_32_2 | Causes of Acute Respiratory Distress Syndrome | Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli) and surrounding small blood vessels. The damaged... | Causes of Acute Respiratory Distress Syndrome. Typically, ARDS develops within 24 to 48 hours of the original illness or injury. It may become a life-threatening condition characterized by inflammation of the lungs, which may begin in one lung but eventually affects both, and leads to damage to the air sacs (alveoli) a... | 32 | Acute Respiratory Distress Syndrome |
nord_32_3 | Affects of Acute Respiratory Distress Syndrome | The incidence of ARDS varies widely, due to the different definitions of the disease, as well as demographic, cultural, and healthcare system related differences across countries. Acute respiratory distress syndrome can affect persons of any age who suffer acute injury or illness affecting the lungs. The incidence incr... | Affects of Acute Respiratory Distress Syndrome. The incidence of ARDS varies widely, due to the different definitions of the disease, as well as demographic, cultural, and healthcare system related differences across countries. Acute respiratory distress syndrome can affect persons of any age who suffer acute injury or... | 32 | Acute Respiratory Distress Syndrome |
nord_32_4 | Related disorders of Acute Respiratory Distress Syndrome | Symptoms of the following disorders can be similar to those of acute respiratory distress syndrome. Comparisons may be useful for a differential diagnosis:Severe acute respiratory syndrome (SARS) is a respiratory illness that began to be reported in Asia, North America and Europe in the spring of 2003. It begins with a... | Related disorders of Acute Respiratory Distress Syndrome. Symptoms of the following disorders can be similar to those of acute respiratory distress syndrome. Comparisons may be useful for a differential diagnosis:Severe acute respiratory syndrome (SARS) is a respiratory illness that began to be reported in Asia, North ... | 32 | Acute Respiratory Distress Syndrome |
nord_32_5 | Diagnosis of Acute Respiratory Distress Syndrome | The diagnosis is based on the presence of respiratory distress accompanied by low levels of oxygen in the blood and the presence of known risk factors such as sepsis, pneumonia, or trauma. Chest x-rays will show fluid filling spaces that should be filled with air. The presence of fluid in the air sacs and the “we... | Diagnosis of Acute Respiratory Distress Syndrome. The diagnosis is based on the presence of respiratory distress accompanied by low levels of oxygen in the blood and the presence of known risk factors such as sepsis, pneumonia, or trauma. Chest x-rays will show fluid filling spaces that should be filled with air. The p... | 32 | Acute Respiratory Distress Syndrome |
nord_32_6 | Therapies of Acute Respiratory Distress Syndrome | TreatmentStandard therapy consists of mechanical ventilation, supplemental oxygen, prone positioning, use of paralytics, fluid management and a technique called positive end expiratory pressure (PEEP) to help push the fluid out of air sacs. These are combined with continuing treatment of the original illness or injury.... | Therapies of Acute Respiratory Distress Syndrome. TreatmentStandard therapy consists of mechanical ventilation, supplemental oxygen, prone positioning, use of paralytics, fluid management and a technique called positive end expiratory pressure (PEEP) to help push the fluid out of air sacs. These are combined with conti... | 32 | Acute Respiratory Distress Syndrome |
nord_33_0 | Overview of Adams-Oliver Syndrome | Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes. AOS is caused by harmful changes (mutations) in the ARHGAP... | Overview of Adams-Oliver Syndrome. Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns, and issues with the eyes. AOS is caused by harmfu... | 33 | Adams-Oliver Syndrome |
nord_33_1 | Symptoms of Adams-Oliver Syndrome | People with AOS may have the following symptoms: absence of areas of skin (aplasia cutis congenita); shortened or missing fingers, hands, toes and/or feet; heart problems present at birth; neurological concerns such as developmental delays and learning disabilities; kidney issues and eye problems.Symptoms can vary wide... | Symptoms of Adams-Oliver Syndrome. People with AOS may have the following symptoms: absence of areas of skin (aplasia cutis congenita); shortened or missing fingers, hands, toes and/or feet; heart problems present at birth; neurological concerns such as developmental delays and learning disabilities; kidney issues and ... | 33 | Adams-Oliver Syndrome |
nord_33_2 | Causes of Adams-Oliver Syndrome | AOS is known to be caused by harmful changes (mutations) in several genes: ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ. Symptoms vary based on which gene is involved. In about 50% of patients, no mutations in these genes are found.Most cases follow an autosomal dominant inheritance pattern through mutations in the ARH... | Causes of Adams-Oliver Syndrome. AOS is known to be caused by harmful changes (mutations) in several genes: ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ. Symptoms vary based on which gene is involved. In about 50% of patients, no mutations in these genes are found.Most cases follow an autosomal dominant inheritance pat... | 33 | Adams-Oliver Syndrome |
nord_33_3 | Affects of Adams-Oliver Syndrome | AOS affects males and females in equal numbers. AOS occurs in about 44 out of every 10 million people and is present at birth. | Affects of Adams-Oliver Syndrome. AOS affects males and females in equal numbers. AOS occurs in about 44 out of every 10 million people and is present at birth. | 33 | Adams-Oliver Syndrome |
nord_33_4 | Related disorders of Adams-Oliver Syndrome | Symptoms of the following conditions can be like those of AOS. Comparisons may be useful for a differential diagnosis:Scalp-ear-nipple syndrome is a rare condition which involves areas of hairless skin on the scalp that is present at birth; ears are small and folded over; and underdeveloped or no nipples. Other symptom... | Related disorders of Adams-Oliver Syndrome. Symptoms of the following conditions can be like those of AOS. Comparisons may be useful for a differential diagnosis:Scalp-ear-nipple syndrome is a rare condition which involves areas of hairless skin on the scalp that is present at birth; ears are small and folded over; and... | 33 | Adams-Oliver Syndrome |
nord_33_5 | Diagnosis of Adams-Oliver Syndrome | The diagnosis of Adams-Oliver syndrome can be made when an infant has both the absence of skin of the scalp and changes of the fingers, hands, toes, and/or feet. Also, a diagnosis can be made if an individual both has aplasia cutis congenita or changes of the fingers, hands, toes and/or feet, and has a first-degree rel... | Diagnosis of Adams-Oliver Syndrome. The diagnosis of Adams-Oliver syndrome can be made when an infant has both the absence of skin of the scalp and changes of the fingers, hands, toes, and/or feet. Also, a diagnosis can be made if an individual both has aplasia cutis congenita or changes of the fingers, hands, toes and... | 33 | Adams-Oliver Syndrome |
nord_33_6 | Therapies of Adams-Oliver Syndrome | TreatmentThe treatment of Adams-Oliver syndrome is directed towards the specific symptoms that are apparent in an individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists, ophthalmologists, physical therapists, and other health car... | Therapies of Adams-Oliver Syndrome. TreatmentThe treatment of Adams-Oliver syndrome is directed towards the specific symptoms that are apparent in an individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, orthopedic and plastic surgeons, cardiologists, ophthalmologists, physi... | 33 | Adams-Oliver Syndrome |
nord_34_0 | Overview of ADCY5-Related Dyskinesia | SummaryADCY5-related dyskinesia is a neurologic disorder with a variety of movement abnormalities. Dyskinesia means that affected individuals have trouble controlling voluntary movements. Voluntary movements are any movements that a person does intentionally such as lifting their arms, walking, or turning one’s head. A... | Overview of ADCY5-Related Dyskinesia. SummaryADCY5-related dyskinesia is a neurologic disorder with a variety of movement abnormalities. Dyskinesia means that affected individuals have trouble controlling voluntary movements. Voluntary movements are any movements that a person does intentionally such as lifting their a... | 34 | ADCY5-Related Dyskinesia |
nord_34_1 | Symptoms of ADCY5-Related Dyskinesia | Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about ADCY5-related dyskinesia is not fully understood. Several factors including the small number of identified patients, the lack of large clinical studies, and the possibility of other genes or additional f... | Symptoms of ADCY5-Related Dyskinesia. Although researchers have been able to establish a clear syndrome with characteristic or “core” symptoms, much about ADCY5-related dyskinesia is not fully understood. Several factors including the small number of identified patients, the lack of large clinical studies, and the poss... | 34 | ADCY5-Related Dyskinesia |
nord_34_2 | Causes of ADCY5-Related Dyskinesia | ADCY5-related dyskinesia is caused by a variation (mutation) in the ADCY5 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation in a gene occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the function... | Causes of ADCY5-Related Dyskinesia. ADCY5-related dyskinesia is caused by a variation (mutation) in the ADCY5 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation in a gene occurs, the protein product may be faulty, inefficient, absent, or overp... | 34 | ADCY5-Related Dyskinesia |
nord_34_3 | Affects of ADCY5-Related Dyskinesia | ADCY5-related dyskinesia affects males and females in equal numbers. The exact number of people who have this disorder is unknown. Rare disorders like ADCY5-dyskinesia often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population. The disorder is almost certainly ... | Affects of ADCY5-Related Dyskinesia. ADCY5-related dyskinesia affects males and females in equal numbers. The exact number of people who have this disorder is unknown. Rare disorders like ADCY5-dyskinesia often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general populati... | 34 | ADCY5-Related Dyskinesia |
nord_34_4 | Related disorders of ADCY5-Related Dyskinesia | Symptoms of the following disorders can be similar to those of ADCY5-related dyskinesia. Comparisons may be useful for a differential diagnosis.Cerebral palsy is a general term that covers a group of disorders that involve impairment of muscle control or coordination resulting from injury to the brain during its early ... | Related disorders of ADCY5-Related Dyskinesia. Symptoms of the following disorders can be similar to those of ADCY5-related dyskinesia. Comparisons may be useful for a differential diagnosis.Cerebral palsy is a general term that covers a group of disorders that involve impairment of muscle control or coordination resul... | 34 | ADCY5-Related Dyskinesia |
nord_34_5 | Diagnosis of ADCY5-Related Dyskinesia | A diagnosis of ADCY5-related dyskinesia is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. There are no published guidelines for diagnosis. A diagnosis is suspected in infants, children or adolescents with ch... | Diagnosis of ADCY5-Related Dyskinesia. A diagnosis of ADCY5-related dyskinesia is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. There are no published guidelines for diagnosis. A diagnosis is suspected in i... | 34 | ADCY5-Related Dyskinesia |
nord_34_6 | Therapies of ADCY5-Related Dyskinesia | Treatment
The treatment of ADCY5-related dyskinesia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric and adult neurologists (physicians who specialize in diagnosing and treating disorders of th... | Therapies of ADCY5-Related Dyskinesia. Treatment
The treatment of ADCY5-related dyskinesia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, pediatric and adult neurologists (physicians who specialize in ... | 34 | ADCY5-Related Dyskinesia |
nord_35_0 | Overview of Addison’s Disease | SummaryAddison's disease is a rare disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of cells of the adrenal glands (adrenal cortex). The symptoms of classic Addison's disease, also known as primary adrenal insufficiency, result from the insufficien... | Overview of Addison’s Disease. SummaryAddison's disease is a rare disorder characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of cells of the adrenal glands (adrenal cortex). The symptoms of classic Addison's disease, also known as primary adrenal insuf... | 35 | Addison’s Disease |
nord_35_1 | Symptoms of Addison’s Disease | The symptoms of Addison’s disease can vary from one individual to another. Symptoms usually develop slowly over time and are usually vague and common to many conditions (nonspecific). This often leads to delays in the proper diagnosis of Addison’s disease. In rare cases, the symptoms of Addison’s disease can develop ra... | Symptoms of Addison’s Disease. The symptoms of Addison’s disease can vary from one individual to another. Symptoms usually develop slowly over time and are usually vague and common to many conditions (nonspecific). This often leads to delays in the proper diagnosis of Addison’s disease. In rare cases, the symptom... | 35 | Addison’s Disease |
nord_35_2 | Causes of Addison’s Disease | Most cases of Addison’s disease occur due to damage or destruction of the adrenal cortex, the outermost layers of the adrenal glands (zona fasciulata, which secretes cortisol and zona glomerulosa, which secretes aldosterone). Symptoms usually do not develop until 90 percent of the adrenal cortex has been damaged.When A... | Causes of Addison’s Disease. Most cases of Addison’s disease occur due to damage or destruction of the adrenal cortex, the outermost layers of the adrenal glands (zona fasciulata, which secretes cortisol and zona glomerulosa, which secretes aldosterone). Symptoms usually do not develop until 90 percent of the adr... | 35 | Addison’s Disease |
nord_35_3 | Affects of Addison’s Disease | Addison’s disease affects males and females in equal numbers. Approximately 1 in 100,000 people in United States have Addison’s disease. The overall prevalence is estimated to be between 40 and 60 people per million of the general population. Because cases of Addison’s disease may go undiagnosed, it is difficult to det... | Affects of Addison’s Disease. Addison’s disease affects males and females in equal numbers. Approximately 1 in 100,000 people in United States have Addison’s disease. The overall prevalence is estimated to be between 40 and 60 people per million of the general population. Because cases of Addison’s disease may go... | 35 | Addison’s Disease |
nord_35_4 | Related disorders of Addison’s Disease | Symptoms of the following disorders can be similar to those of Addison’s disease. Comparisons may be useful for a differential diagnosis.ACTH deficiency is a rare disorder that arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the pituitary gland. It is a form of secondary ad... | Related disorders of Addison’s Disease. Symptoms of the following disorders can be similar to those of Addison’s disease. Comparisons may be useful for a differential diagnosis.ACTH deficiency is a rare disorder that arises as a result of decreased or absent production of adrenocorticotropic hormone (ACTH) by the... | 35 | Addison’s Disease |
nord_35_5 | Diagnosis of Addison’s Disease | A diagnosis of Addison’s disease is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. Often a diagnosis is made incidentally during a routine exam when a blood test shows low levels of sodium or high levels of potassium. A diagnosis may be con... | Diagnosis of Addison’s Disease. A diagnosis of Addison’s disease is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. Often a diagnosis is made incidentally during a routine exam when a blood test shows low levels of sodium or high level... | 35 | Addison’s Disease |
nord_35_6 | Therapies of Addison’s Disease | Treatment
The treatment of Addison’s disease is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Individuals with Addison’s disease are treated by replacing the deficient steroid hormones (cortisol and aldosterone). Corti... | Therapies of Addison’s Disease. Treatment
The treatment of Addison’s disease is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Individuals with Addison’s disease are treated by replacing the deficient steroid horm... | 35 | Addison’s Disease |
nord_36_0 | Overview of Adenoid Cystic Carcinoma | Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. ACC can occur in other parts of the body, such as the breast, skin, cervix in females, prostate gland in males and various other areas. ACC tumors are characterize... | Overview of Adenoid Cystic Carcinoma. Adenoid cystic carcinoma (ACC) is a relatively rare form of cancer that most commonly develops in the salivary glands or other regions of the head and neck. ACC can occur in other parts of the body, such as the breast, skin, cervix in females, prostate gland in males and various ot... | 36 | Adenoid Cystic Carcinoma |
nord_36_1 | Symptoms of Adenoid Cystic Carcinoma | There are three histological tumor growth patterns common to ACC: cribriform, tubular and solid. The cribriform growth pattern is most common and appears as a “Swiss cheese” pattern in histological stains. The cribriform and tubular growth patterns are less aggressive. Tumors exhibiting a solid pattern are more likely ... | Symptoms of Adenoid Cystic Carcinoma. There are three histological tumor growth patterns common to ACC: cribriform, tubular and solid. The cribriform growth pattern is most common and appears as a “Swiss cheese” pattern in histological stains. The cribriform and tubular growth patterns are less aggressive. Tumors exhib... | 36 | Adenoid Cystic Carcinoma |
nord_36_2 | Causes of Adenoid Cystic Carcinoma | The exact cause of adenoid cystic carcinoma is unknown. However, current research suggests that genetic changes (chromosomal rearrangements, pathogenic variants in genes or other DNA alterations) are the underlying basis of cellular malignant transformation in many cancers, including ACC.Researchers speculate that a pr... | Causes of Adenoid Cystic Carcinoma. The exact cause of adenoid cystic carcinoma is unknown. However, current research suggests that genetic changes (chromosomal rearrangements, pathogenic variants in genes or other DNA alterations) are the underlying basis of cellular malignant transformation in many cancers, including... | 36 | Adenoid Cystic Carcinoma |
nord_36_3 | Affects of Adenoid Cystic Carcinoma | Every year, about 1,200 individuals are diagnosed with ACC in the United States. 58% of ACC patients exhibit tumors in the oral cavity, salivary glands and pharynx, 17% in the respiratory system, 12% in the breast and the remaining 13% of tumors occur in other areas of the body such as on the skin, lacrimal glands, pro... | Affects of Adenoid Cystic Carcinoma. Every year, about 1,200 individuals are diagnosed with ACC in the United States. 58% of ACC patients exhibit tumors in the oral cavity, salivary glands and pharynx, 17% in the respiratory system, 12% in the breast and the remaining 13% of tumors occur in other areas of the body such... | 36 | Adenoid Cystic Carcinoma |
nord_36_4 | Related disorders of Adenoid Cystic Carcinoma | Depending upon the tumor site, some benign (noncancerous) growths may appear similar to primary ACC tumor development. However, ACC typically exhibits additional symptoms that distinguish it from benign growths. Microscopic examination of tumor cells and other diagnostic testing are essential in differentiating between... | Related disorders of Adenoid Cystic Carcinoma. Depending upon the tumor site, some benign (noncancerous) growths may appear similar to primary ACC tumor development. However, ACC typically exhibits additional symptoms that distinguish it from benign growths. Microscopic examination of tumor cells and other diagnostic t... | 36 | Adenoid Cystic Carcinoma |
nord_36_5 | Diagnosis of Adenoid Cystic Carcinoma | The diagnosis of adenoid cystic carcinoma is based upon a thorough clinical evaluation, characteristic symptoms and physical findings, a detailed patient history and a variety of specialized tests. Such testing includes microscopic evaluation of tumor cells.Biopsies play a major role in the evaluation and treatment pla... | Diagnosis of Adenoid Cystic Carcinoma. The diagnosis of adenoid cystic carcinoma is based upon a thorough clinical evaluation, characteristic symptoms and physical findings, a detailed patient history and a variety of specialized tests. Such testing includes microscopic evaluation of tumor cells.Biopsies play a major r... | 36 | Adenoid Cystic Carcinoma |
nord_36_6 | Therapies of Adenoid Cystic Carcinoma | Treatment
The therapeutic management of individuals with ACC may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), specialists in the use of radiation to treat cancer (radiation oncologists), surgeons, on... | Therapies of Adenoid Cystic Carcinoma. Treatment
The therapeutic management of individuals with ACC may require the coordinated efforts of a team of medical professionals, such as physicians who specialize in the diagnosis and treatment of cancer (medical oncologists), specialists in the use of radiation to treat cance... | 36 | Adenoid Cystic Carcinoma |
nord_37_0 | Overview of Adenylosuccinate Lyase Deficiency | SummaryAdenylosuccinate lyase deficiency is an inherited metabolic disorder that is characterized into three categories (fatal neonatal form, type I and type II), each of which has a specific age of onset and severity of symptoms. Individuals with this disorder may have symptoms such as slowing of thought and physical ... | Overview of Adenylosuccinate Lyase Deficiency. SummaryAdenylosuccinate lyase deficiency is an inherited metabolic disorder that is characterized into three categories (fatal neonatal form, type I and type II), each of which has a specific age of onset and severity of symptoms. Individuals with this disorder may have sy... | 37 | Adenylosuccinate Lyase Deficiency |
nord_37_1 | Symptoms of Adenylosuccinate Lyase Deficiency | Three categories of adenylosuccinate lyase deficiency have been recognized. The first is the fatal neonatal form, where babies have encephalopathy with lack of spontaneous movement, respiratory failure and intractable seizures. There may be some prenatal indications such as the fetus being small in size (IUGR), having ... | Symptoms of Adenylosuccinate Lyase Deficiency. Three categories of adenylosuccinate lyase deficiency have been recognized. The first is the fatal neonatal form, where babies have encephalopathy with lack of spontaneous movement, respiratory failure and intractable seizures. There may be some prenatal indications such a... | 37 | Adenylosuccinate Lyase Deficiency |
nord_37_2 | Causes of Adenylosuccinate Lyase Deficiency | Adenylosuccinate lyase deficiency (ASLD) is a type of metabolic disorder. Metabolism is the process in which organisms take in various organic materials, use them to build cellular structures and for energy, and expel any waste products. Adenylosuccinate lyase is important in the production of purines (guanine and aden... | Causes of Adenylosuccinate Lyase Deficiency. Adenylosuccinate lyase deficiency (ASLD) is a type of metabolic disorder. Metabolism is the process in which organisms take in various organic materials, use them to build cellular structures and for energy, and expel any waste products. Adenylosuccinate lyase is important i... | 37 | Adenylosuccinate Lyase Deficiency |
nord_37_3 | Affects of Adenylosuccinate Lyase Deficiency | All forms of adenylosuccinate lyase deficiency affect males and females in equal numbers. The age of onset and frequency is different between the different types. People with the fatal neonatal form and type I begin showing symptoms within the first few months of life. In type II, people begin showing symptoms within t... | Affects of Adenylosuccinate Lyase Deficiency. All forms of adenylosuccinate lyase deficiency affect males and females in equal numbers. The age of onset and frequency is different between the different types. People with the fatal neonatal form and type I begin showing symptoms within the first few months of life. In t... | 37 | Adenylosuccinate Lyase Deficiency |
nord_37_4 | Related disorders of Adenylosuccinate Lyase Deficiency | Related disorders of Adenylosuccinate Lyase Deficiency. | 37 | Adenylosuccinate Lyase Deficiency | |
nord_37_5 | Diagnosis of Adenylosuccinate Lyase Deficiency | A diagnosis of adenylosuccinate lyase deficiency should be considered in infants with seizures, delayed milestones, muscle weakness and/or autistic features. The diagnosis is based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal fluid (the fluid that surrounds the spinal nerve... | Diagnosis of Adenylosuccinate Lyase Deficiency. A diagnosis of adenylosuccinate lyase deficiency should be considered in infants with seizures, delayed milestones, muscle weakness and/or autistic features. The diagnosis is based on elevated levels of two compounds in body fluids such as plasma, urine and cerebrospinal ... | 37 | Adenylosuccinate Lyase Deficiency |
nord_37_6 | Therapies of Adenylosuccinate Lyase Deficiency | Treatment Current treatments are available to control seizures, although drug resistance can occur. Studies have been done to identify treatments specific for ASLD (such as D-ribose, uridine and S-adenosyl-1-methionine), but these experimental treatments have not been proven to be beneficial. | Therapies of Adenylosuccinate Lyase Deficiency. Treatment Current treatments are available to control seizures, although drug resistance can occur. Studies have been done to identify treatments specific for ASLD (such as D-ribose, uridine and S-adenosyl-1-methionine), but these experimental treatments have not been pr... | 37 | Adenylosuccinate Lyase Deficiency |
nord_38_0 | Overview of Adie Syndrome | Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is larger than normal (dilated) and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder. In most individuals, the cause is unkno... | Overview of Adie Syndrome. Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is larger than normal (dilated) and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder. In most indi... | 38 | Adie Syndrome |
nord_38_1 | Symptoms of Adie Syndrome | Normally the pupil gets smaller (constricts) in the presence of light or when focusing on nearby objects. The pupil normally opens wider (dilates) in dim light or darkness, when focusing on far away objects, or when a person is excited. In most patients with Adie syndrome the affected pupil is larger than normal (dilat... | Symptoms of Adie Syndrome. Normally the pupil gets smaller (constricts) in the presence of light or when focusing on nearby objects. The pupil normally opens wider (dilates) in dim light or darkness, when focusing on far away objects, or when a person is excited. In most patients with Adie syndrome the affected pupil i... | 38 | Adie Syndrome |
nord_38_2 | Causes of Adie Syndrome | In most instances, the exact cause of Adie syndrome is unknown (idiopathic). It is believed that most cases result from inflammation or damage to the ciliary ganglion, a cluster of nerve cells found in the eye socket (orbit) just behind the eyes, or damage to the post-ganglionic nerves. The ciliary ganglion is part of ... | Causes of Adie Syndrome. In most instances, the exact cause of Adie syndrome is unknown (idiopathic). It is believed that most cases result from inflammation or damage to the ciliary ganglion, a cluster of nerve cells found in the eye socket (orbit) just behind the eyes, or damage to the post-ganglionic nerves. The cil... | 38 | Adie Syndrome |
nord_38_3 | Affects of Adie Syndrome | Adie syndrome affects females more often than males by a ratio by some estimates of 2.6:1 for cases where the cause is unknown. Young adults usually between the ages of 25 to 45 are most commonly affected. The prevalence of Adie’s pupil (not the full syndrome) is approximately 2 people per 1,000 in the general populati... | Affects of Adie Syndrome. Adie syndrome affects females more often than males by a ratio by some estimates of 2.6:1 for cases where the cause is unknown. Young adults usually between the ages of 25 to 45 are most commonly affected. The prevalence of Adie’s pupil (not the full syndrome) is approximately 2 people per 1,0... | 38 | Adie Syndrome |
nord_38_4 | Related disorders of Adie Syndrome | Symptoms of the following disorders can be similar to those of Adie syndrome. Comparisons may be useful for a differential diagnosis:Ross syndrome is a variant of Adie syndrome in which affected individuals experience an impaired ability to sweat normally (anhidrosis) in association with Adie pupil and loss of deep ten... | Related disorders of Adie Syndrome. Symptoms of the following disorders can be similar to those of Adie syndrome. Comparisons may be useful for a differential diagnosis:Ross syndrome is a variant of Adie syndrome in which affected individuals experience an impaired ability to sweat normally (anhidrosis) in association ... | 38 | Adie Syndrome |
nord_38_5 | Diagnosis of Adie Syndrome | A diagnosis of Adie syndrome can be made by a thorough clinical evaluation and a detailed patient history. A complete eye examination by an ophthalmologist is recommended. An eye doctor may use water-downed (diluted) pilocarpine to test the pupil’s reaction. Pilocarpine, given in the form of eye drops, is a drug that c... | Diagnosis of Adie Syndrome. A diagnosis of Adie syndrome can be made by a thorough clinical evaluation and a detailed patient history. A complete eye examination by an ophthalmologist is recommended. An eye doctor may use water-downed (diluted) pilocarpine to test the pupil’s reaction. Pilocarpine, given in the form of... | 38 | Adie Syndrome |
nord_38_6 | Therapies of Adie Syndrome | In most instances, treatment will not be necessary. Glasses may be prescribed to correct blurred vision; sunglasses can help individuals with sensitivity to light. Therapy using dilute pilocarpine may improve poor depth perception and relieve glare in some patients. The loss of deep tendon reflexes is permanent. | Therapies of Adie Syndrome. In most instances, treatment will not be necessary. Glasses may be prescribed to correct blurred vision; sunglasses can help individuals with sensitivity to light. Therapy using dilute pilocarpine may improve poor depth perception and relieve glare in some patients. The loss of deep tendon r... | 38 | Adie Syndrome |
nord_39_0 | Overview of ADNP Syndrome | SummaryADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. These mutations occur spontaneously in the majority (97%) of reported patients, meaning there has been no family history of the disorder (de novo mutations). The ... | Overview of ADNP Syndrome. SummaryADNP syndrome, also known as Helsmoortel-Van Der Aa syndrome, is a neurodevelopmental genetic disorder caused by changes (mutations) in the ADNP gene. These mutations occur spontaneously in the majority (97%) of reported patients, meaning there has been no family history of the disorde... | 39 | ADNP Syndrome |
nord_39_1 | Symptoms of ADNP Syndrome | Although researchers have established a clear syndromic presentation with characteristic or “core” symptoms associated with pathogenic variants in the ADNP gene, much about the disorder is not fully understood. Several factors have impeded the identification of a complete picture of the associated symptoms and prognosi... | Symptoms of ADNP Syndrome. Although researchers have established a clear syndromic presentation with characteristic or “core” symptoms associated with pathogenic variants in the ADNP gene, much about the disorder is not fully understood. Several factors have impeded the identification of a complete picture of the assoc... | 39 | ADNP Syndrome |
nord_39_2 | Causes of ADNP Syndrome | ADNP syndrome is caused by a change (mutation) in the activity-dependent neuroprotective protein (ADNP) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, absent, or overproduce... | Causes of ADNP Syndrome. ADNP syndrome is caused by a change (mutation) in the activity-dependent neuroprotective protein (ADNP) gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficien... | 39 | ADNP Syndrome |
nord_39_3 | Affects of ADNP Syndrome | ADNP syndrome affects females and males in equal numbers. The exact number of people who have this disorder is unknown. According to one estimate, about 1 in 20,000 people in the general population in the United States and Europe have the disorder. Rare disorders like ADNP syndrome often go misdiagnosed or undiagnosed,... | Affects of ADNP Syndrome. ADNP syndrome affects females and males in equal numbers. The exact number of people who have this disorder is unknown. According to one estimate, about 1 in 20,000 people in the general population in the United States and Europe have the disorder. Rare disorders like ADNP syndrome often go mi... | 39 | ADNP Syndrome |
nord_39_4 | Related disorders of ADNP Syndrome | Symptoms of the following disorders can be similar to those of ADNP syndrome. Comparisons may be useful for a differential diagnosis.Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mu... | Related disorders of ADNP Syndrome. Symptoms of the following disorders can be similar to those of ADNP syndrome. Comparisons may be useful for a differential diagnosis.Phelan-McDermid syndrome (PMS) is a rare genetic condition caused by a deletion or other structural change of the terminal end of chromosome 22 in the ... | 39 | ADNP Syndrome |
nord_39_5 | Diagnosis of ADNP Syndrome | A diagnosis of ADNP syndrome may be suspected based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Premature tooth eruption and abnormal tooth development when occurring along with developmental delays or intellectual disabi... | Diagnosis of ADNP Syndrome. A diagnosis of ADNP syndrome may be suspected based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Premature tooth eruption and abnormal tooth development when occurring along with developmental d... | 39 | ADNP Syndrome |
nord_39_6 | Therapies of ADNP Syndrome | Treatment
The treatment of ADNP syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, a physician who specializes in the diagnosis and treatment of disorders of the brain, nerves and nervous system i... | Therapies of ADNP Syndrome. Treatment
The treatment of ADNP syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, a physician who specializes in the diagnosis and treatment of disorders of the brain,... | 39 | ADNP Syndrome |
nord_40_0 | Overview of Adult Neuronal Ceroid Lipofuscinosis | SummaryAdult neuronal ceroid lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). These disorders share certain similar symptoms and are distinguished in part by the age... | Overview of Adult Neuronal Ceroid Lipofuscinosis. SummaryAdult neuronal ceroid lipofuscinosis (ANCL) is a general term for several rare genetic disorders that belong to a group of progressive, degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). These disorders share certain similar... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_1 | Symptoms of Adult Neuronal Ceroid Lipofuscinosis | ANCL or Kufs disease was generally broken down into type A and type B. The signs and symptoms of these two subtypes often overlap and the distinction between the two is not always clear. Symptoms typically become worse over time. Generally, type A is associated with progressive myoclonic epilepsy (PME). PME is a condit... | Symptoms of Adult Neuronal Ceroid Lipofuscinosis. ANCL or Kufs disease was generally broken down into type A and type B. The signs and symptoms of these two subtypes often overlap and the distinction between the two is not always clear. Symptoms typically become worse over time. Generally, type A is associated with pro... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_2 | Causes of Adult Neuronal Ceroid Lipofuscinosis | Changes (mutations) in several different genes can cause adult neuronal ceroid lipofuscinosis. These include the CLN6 gene for type A and the CTSF gene for type B. There are also people with adult onset of neuronal ceroid lipofuscinosis due to changes in the PPT1 gene, the CLN5 gene, CTSD gene, and the GRN gene. Adult ... | Causes of Adult Neuronal Ceroid Lipofuscinosis. Changes (mutations) in several different genes can cause adult neuronal ceroid lipofuscinosis. These include the CLN6 gene for type A and the CTSF gene for type B. There are also people with adult onset of neuronal ceroid lipofuscinosis due to changes in the PPT1 gene, th... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_3 | Affects of Adult Neuronal Ceroid Lipofuscinosis | Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population. Prevalence is the total numbers of individuals with a disease at a given time. Studies into the incidence of ANCL have varied based on the country conducting the... | Affects of Adult Neuronal Ceroid Lipofuscinosis. Adult neuronal ceroid lipofuscinoses are extremely rare disorders. The prevalence is estimated to be about 1.5 people per 9,000,000 in the general population. Prevalence is the total numbers of individuals with a disease at a given time. Studies into the incidence of ANC... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_4 | Related disorders of Adult Neuronal Ceroid Lipofuscinosis | Symptoms of the following disorders can be similar to those of adult neuronal ceroid lipofuscinosis. Comparisons may be useful for a differential diagnosis.Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a resul... | Related disorders of Adult Neuronal Ceroid Lipofuscinosis. Symptoms of the following disorders can be similar to those of adult neuronal ceroid lipofuscinosis. Comparisons may be useful for a differential diagnosis.Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-u... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_5 | Diagnosis of Adult Neuronal Ceroid Lipofuscinosis | A diagnosis of adult neuronal ceroid lipofuscinosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The tests used may be different based on the specific subtype of ANCL. These tests can include enzyme assays, the st... | Diagnosis of Adult Neuronal Ceroid Lipofuscinosis. A diagnosis of adult neuronal ceroid lipofuscinosis is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. The tests used may be different based on the specific subtype of ... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_40_6 | Therapies of Adult Neuronal Ceroid Lipofuscinosis | TreatmentThe treatment of adult neuronal ceroid lipofuscinosis is directed toward the specific symptoms that are apparent in each individual. There are no disease-specific treatments for ANCL yet. Treatment may require the coordinated efforts of a team of specialists. General internists, metabolic geneticists, neurolog... | Therapies of Adult Neuronal Ceroid Lipofuscinosis. TreatmentThe treatment of adult neuronal ceroid lipofuscinosis is directed toward the specific symptoms that are apparent in each individual. There are no disease-specific treatments for ANCL yet. Treatment may require the coordinated efforts of a team of specialists. ... | 40 | Adult Neuronal Ceroid Lipofuscinosis |
nord_41_0 | Overview of Adult Polyglucosan Body Disease | Summary Adult polyglucosan body disease (APBD) is a rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme, resulting in the accumulation of polyglucosan bodies in muscle, nerve and various other tissues of the body. Polyglucosan bodies are composed of large, complex, sugar-based molecules. A... | Overview of Adult Polyglucosan Body Disease. Summary Adult polyglucosan body disease (APBD) is a rare, genetic disorder characterized by a deficiency of glycogen-branching enzyme, resulting in the accumulation of polyglucosan bodies in muscle, nerve and various other tissues of the body. Polyglucosan bodies are compose... | 41 | Adult Polyglucosan Body Disease |
nord_41_1 | Symptoms of Adult Polyglucosan Body Disease | Symptoms and severity can vary greatly from one person to another. Typically, symptoms develop around the fifth decade of life. The initial sign is many times related to neurogenic bladder: specifically, an increased need to urinate that may eventually progress to cause a near complete loss of bladder control (urinary ... | Symptoms of Adult Polyglucosan Body Disease. Symptoms and severity can vary greatly from one person to another. Typically, symptoms develop around the fifth decade of life. The initial sign is many times related to neurogenic bladder: specifically, an increased need to urinate that may eventually progress to cause a ne... | 41 | Adult Polyglucosan Body Disease |
nord_41_2 | Causes of Adult Polyglucosan Body Disease | APBD is caused by a mutation in the GBE1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of the particular domain, this can affect man... | Causes of Adult Polyglucosan Body Disease. APBD is caused by a mutation in the GBE1 gene. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. Depending upon the functions of... | 41 | Adult Polyglucosan Body Disease |
nord_41_3 | Affects of Adult Polyglucosan Body Disease | Adult polyglucosan body disease is a rare disorder that appears to affect males and females in equal proportions. Familial clustering is observed in about 30% of cases especially among Ashkenazi Jewish populations. More than 50 cases have been reported in the medical literature. | Affects of Adult Polyglucosan Body Disease. Adult polyglucosan body disease is a rare disorder that appears to affect males and females in equal proportions. Familial clustering is observed in about 30% of cases especially among Ashkenazi Jewish populations. More than 50 cases have been reported in the medical literatu... | 41 | Adult Polyglucosan Body Disease |
nord_41_4 | Related disorders of Adult Polyglucosan Body Disease | A wide variety of disorders can be mistaken for APBD. Such disorders include multiple sclerosis, hereditary spastic paraplegia, adrenomyeloneuropathy, amyotrophic lateral sclerosis, metachromatic leukodystrophy, and Pelizaeus-Merzbacher disease. Men with primarily urinary symptoms may be mistaken for having an enlarged... | Related disorders of Adult Polyglucosan Body Disease. A wide variety of disorders can be mistaken for APBD. Such disorders include multiple sclerosis, hereditary spastic paraplegia, adrenomyeloneuropathy, amyotrophic lateral sclerosis, metachromatic leukodystrophy, and Pelizaeus-Merzbacher disease. Men with primarily u... | 41 | Adult Polyglucosan Body Disease |
nord_41_5 | Diagnosis of Adult Polyglucosan Body Disease | A diagnosis is made based upon a thorough clinical evaluation, identification of characteristic findings, a detailed patient history, and a variety of specialized tests. Clinical Testing and Workup
Direct examination of tissue by a pathologist (electron and light microscopy) can help reach a definitive diagnosis. The m... | Diagnosis of Adult Polyglucosan Body Disease. A diagnosis is made based upon a thorough clinical evaluation, identification of characteristic findings, a detailed patient history, and a variety of specialized tests. Clinical Testing and Workup
Direct examination of tissue by a pathologist (electron and light microscopy... | 41 | Adult Polyglucosan Body Disease |
nord_41_6 | Therapies of Adult Polyglucosan Body Disease | Treatment
To date, there is no specific therapy for individuals with APBD. Treatment is aimed at the specific symptoms present in each person. Treatment generally requires a team approach and may include neurologists, general internists, urologists, specialists in behavioral neurology, specialists in physical medicine ... | Therapies of Adult Polyglucosan Body Disease. Treatment
To date, there is no specific therapy for individuals with APBD. Treatment is aimed at the specific symptoms present in each person. Treatment generally requires a team approach and may include neurologists, general internists, urologists, specialists in behaviora... | 41 | Adult Polyglucosan Body Disease |
nord_42_0 | Overview of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | SummaryAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, progressive neurological disease that causes brain tissue known as white matter to waste away (leukodystrophy), forming lesions in certain brain areas due to disease-causing variants in the CSF1R (colony-stimulating factor... | Overview of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. SummaryAdult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare, progressive neurological disease that causes brain tissue known as white matter to waste away (leukodystrophy), forming lesions in certa... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_42_1 | Symptoms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | Early symptoms of ALSP often include mild psychological or cognitive changes, but, while rare, can present as disturbances in motor function, such as difficulty walking, falling, and slowness of movements. Eventually, as damage in the brain becomes more extensive, psychological, cognitive and motor symptoms exist toget... | Symptoms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. Early symptoms of ALSP often include mild psychological or cognitive changes, but, while rare, can present as disturbances in motor function, such as difficulty walking, falling, and slowness of movements. Eventually, as damage in the... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_42_2 | Causes of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | ALSP is caused by an abnormal CSF1R gene variant that codes for the protein colony-stimulating factor-1 receptor found on many cell membranes, including those in the central nervous system, or CNS (consisting of the brain and spinal cord). This receptor plays a role in cell growth and cell specialization where cells ta... | Causes of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. ALSP is caused by an abnormal CSF1R gene variant that codes for the protein colony-stimulating factor-1 receptor found on many cell membranes, including those in the central nervous system, or CNS (consisting of the brain and spinal cor... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_42_3 | Affects of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | The estimated number of people thought to have ALSP in the United States is 10,000 with similar estimates in Europe and Japan. Average age of diagnosis is 43 years old, but symptoms have been reported to occur in patients as young as 18, and 95% of ALSP patients start having symptoms before age 60. Both men and women a... | Affects of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. The estimated number of people thought to have ALSP in the United States is 10,000 with similar estimates in Europe and Japan. Average age of diagnosis is 43 years old, but symptoms have been reported to occur in patients as young as 1... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_42_4 | Related disorders of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | Many symptoms of ALSP overlap with other neurological disorders, including other types of leukodystrophies. Genetic testing is required for accurate diagnosis. Based on symptoms, ALSP is most similar to the following disorders: Frontotemporal dementias (FTDs) are a group of neurodegenerative disorders associated with s... | Related disorders of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. Many symptoms of ALSP overlap with other neurological disorders, including other types of leukodystrophies. Genetic testing is required for accurate diagnosis. Based on symptoms, ALSP is most similar to the following disorder... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
nord_42_5 | Diagnosis of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia | Diagnosis of ALSP is made by a neurologist. ALSP is diagnosed through genetic testing that identifies a CSF1R gene variant associated with the disease. However, family history, clinical signs and brain imaging results are integral in raising suspicions enough to order genetic testing. When symptoms affecting cognition ... | Diagnosis of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. Diagnosis of ALSP is made by a neurologist. ALSP is diagnosed through genetic testing that identifies a CSF1R gene variant associated with the disease. However, family history, clinical signs and brain imaging results are integral in... | 42 | Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
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