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### Instruction:
abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks
### Response:
Abetalipoproteimemia... | Bassen-Kornzweig syndrome (Exams and Tests): There may be damage to the retina of the eye (retinitis pigmentosa). Tests that may be done to help diagnose this condition include: - Apolipoprotein B blood test - Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K) - "Burr-cell" mal... |
### Instruction:
abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks
### Response:
Abetalipoproteimemia... | Bassen-Kornzweig syndrome: Bassen-Kornzweig syndrome is a rare disease passed down through families. The person is unable to fully absorb dietary fats through the intestines. Bassen-Kornzweig syndrome is caused by a defect in a gene that tells the body to create lipoproteins (molecules of fat combined with protein). Th... |
### Instruction:
abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks
### Response:
Large doses of fat-... | Abetalipoproteinemia: Abetalipoproteinemia is a condition characterized by the inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins. [1] Signs and symptoms appear in the first few months of life and can include failure to thrive; diarrhea; acanthocytosis; and stool abnormalities. Other features ... |
### Instruction:
abetalipoproteimemia hi, I would like to know if there is any support for those suffering with abetalipoproteinemia? I am not diagnosed but have had many test that indicate I am suffering with this, keen to learn how to get it diagnosed and how to manage, many thanks
### Response:
People with abetalip... | abetalipoproteinemia: Abetalipoproteinemia is an inherited disorder that affects the absorption of dietary fats, cholesterol, and fat-soluble vitamins. People affected by this disorder are not able to make certain lipoproteins, which are particles that carry fats and fat-like substances (such as cholesterol) in the blo... |
### Instruction:
Absence seizures Does any damage occurre from these spells. Mental or physical
### Response:
Absence seizures usually last only a few seconds, but may occur many times a day and could go unnoticed. The seizures may Interfere with school and learning or be mistaken for lack of attention, daydreaming ... | Absence seizure: An absence seizure is the term for a type of seizure involving staring spells. This type of seizure is a brief (usually less than 15 seconds) disturbance of brain function due to abnormal electrical activity in the brain. Absence seizures occur most often in people under age 20, usually in children age... |
### Instruction:
Absence seizures Does any damage occurre from these spells. Mental or physical
### Response:
Multiple daily episodes of absence seizures. may interfere with school or daily activities. A decline in a child's learning ability may be the first sign of this disorder, which could be mistaken for inabili... | Absence seizure: Absence seizures involve brief, sudden lapses of consciousness. They're more common in children than in adults. Someone having an absence seizure may look like he or she is staring blankly into space for a few seconds. Then, there is a quick return to a normal level of alertness. This type of seizure u... |
### Instruction:
Absence seizures Does any damage occurre from these spells. Mental or physical
### Response:
Patients with absence seizures usually develop normally. Uncontrolled absence seizures may have an impact on their ability to learn at school. Treatment with antiepileptic medication renders 62-84% of all pa... | Epilepsy juvenile absence: The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1941 Disease definition Juvenile absence epilepsy (JAE) is a genetic epilepsy with onset occurring around puberty. JAE is characterized by sporadic occurrence o... |
### Instruction:
Achondroplasia research. Hello, We are students from and we are doing a biology project of genetic diseases. We chose Achondroplasia as our disease to research. We have a few question and we are hoping you could answer them. Our questions are, can you tell if your child will have Achondroplasia whe... | Achondroplasia (Causes): Achondroplasia is one of a group of disorders called chondrodystrophies, or osteochondrodysplasias. Achondroplasia may be inherited as an autosomal dominant trait, which means that if a child gets the defective gene from 1 parent, the child will have the disorder. If 1 parent has achondroplas... |
### Instruction:
adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??
### Response:
Adrenoleukodystrophy is a genetic disorder that causes damage to the myelin sheath, an insulating membrane that su... | What is Adrenoleukodystrophy?: X-linked Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, an insulating membrane that surrounds nerve cells in the brain. Women have two X chromosomes and are the carriers of the disease, but since men on... |
### Instruction:
adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??
### Response:
Adrenoleukodystrophy is a family of hereditary disorders that disrupt the breakdown of certain fats.
### Response:... | What is Adrenoleukodystrophy?: Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families. |
### Instruction:
adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??
### Response:
Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly m... | Adrenoleukodystrophy: Adrenoleukodystrophy describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are passed down (inherited) in families. Adrenoleukodystrophy is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males, although som... |
### Instruction:
adrenoleukodystrophy A child I have been asked to work with has been diagnosed with this condition.I am so far unable to find info pertaining to this illness. Can you help??
### Response:
X-linked adrenoleukodystrophy (X-ALD) is an inherited condition that occurs mostly in males, and affects the ner... | X-linked adrenoleukodystrophy (Summary): X-linked adrenoleukodystrophy (X-ALD) is an inherited condition that occurs mostly in males. The condition mainly affects the nervous system and the adrenal glands (small glands located on top of each kidney). People with this disorder often have progressive destruction of the... |
### Instruction:
Angelman syndrome. Can a person with Angelman Syndrome have children? If so, can the disorder be passed on to offspring?
### Response:
Angelman syndrome is a rare genetic disorder that may be inherited from a parent. Offspring of people with a family history of Angelman syndrome may be at an increase... | Angelman syndrome: Angelman syndrome is a genetic disorder. It causes developmental disabilities, neurological problems and sometimes, seizures. People with Angelman syndrome often smile and laugh frequently, and have happy, excitable personalities. Developmental delays, between about 6 and 12 months of age, are usuall... |
### Instruction:
Angelman syndrome. Can a person with Angelman Syndrome have children? If so, can the disorder be passed on to offspring?
### Response:
Angelman syndrome is rarely inherited from a parent. Mostly, random genetic changes in the parents' reproductive cells cause this disorder.
### Response:
| Is Angelman syndrome inherited?: Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy. These genetic changes occur as random events during the formation of reproductive cells (eggs and sperm) or in early embryonic deve... |
### Instruction:
Angelman syndrome. Can a person with Angelman Syndrome have children? If so, can the disorder be passed on to offspring?
### Response:
Angelman syndrome is rarely inherited from a parent. Mostly, random genetic changes in the parents' reproductive cells cause this disorder.
### Response:
| Angelman syndrome (Risk factors): Angelman syndrome is rare. Researchers usually don't know what causes the genetic changes that result in Angelman syndrome. Most people with Angelman syndrome don't have a family history of the disease. Occasionally, Angelman syndrome may be inherited from a parent. A family history of... |
### Instruction:
Angelman syndrome. Can a person with Angelman Syndrome have children? If so, can the disorder be passed on to offspring?
### Response:
Angelman syndrome is rarely inherited from a parent. Mostly, random genetic changes in the parents' reproductive cells cause this disorder.
### Response:
| Angelman syndrome: Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurr... |
### Instruction:
Causes of Peripheral Neuropathy What information does the National Library of Medicine have that states causes of peripheral neuropathy?
### Response:
Causes of peripheral neuropathy include: trauma, infections, metabolic problems, and exposure to toxins. One of the most common causes of peripheral n... | Peripheral neuropathy (Overview): Peripheral neuropathy, a result of damage to your peripheral nerves, often causes weakness, numbness and pain, usually in your hands and feet. It can also affect other areas of your body. Your peripheral nervous system sends information from your brain and spinal cord (central nervous ... |
### Instruction:
Causes of Peripheral Neuropathy What information does the National Library of Medicine have that states causes of peripheral neuropathy?
### Response:
Peripheral neuropathy pertains to more than 100 types of damage to the nerves that transmit information from the brain and spinal cord to every other p... | Peripheral Neuropathy (Definition): Peripheral neuropathy describes damage to the peripheral nervous system, which transmits information from the brain and spinal cord to every other part of the body. More than 100 types of peripheral neuropathy have been identified, each with its own characteristic set of symptoms, pa... |
### Instruction:
Causes of Peripheral Neuropathy What information does the National Library of Medicine have that states causes of peripheral neuropathy?
### Response:
Peripheral neuropathy is nerve damage caused by a number of conditions that include: alcoholism; autoimmune diseases; diabetes; exposure to toxins, suc... | Peripheral neuropathy (Causes): Not a single disease, peripheral neuropathy is nerve damage caused by a number of conditions. Causes of neuropathies include: - Alcoholism. Poor dietary choices made by people with alcoholism can lead to vitamin deficiencies. - Autoimmune diseases. These include Sjogren's syndrome, lup... |
### Instruction:
My cousin she is leber amaurosis she need help I don't know where to start from
### Response:
Leber congenital amaurosis is associated with severe visual impairment beginning in infancy, increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsighted... | Leber congenital amaurosis: Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stab... |
### Instruction:
My cousin she is leber amaurosis she need help I don't know where to start from
### Response:
Treatments for Leber congenital amaurosis are discussed in the linked resources. Discuss your treatment options with your healthcare provider.
### Response:
| Leber congenital amaurosis (Treatment): The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines GeneReviews provides current, expert-authored, peer-reviewed, full-text ar... |
### Instruction:
Stiff person Syndrome. Please can you tell me what are the early symptoms I have severe cramps in my feet which are twisting into an arc,muscle spasms slowly getting worse and my muscles particularly in my legs are cramping like someone has pushed a knitting needle into them. Started off at night but n... | Stiff-Person Syndrome: Stiff-person syndrome (SPS) is a rare neurological disorder with features of an autoimmune disease. SPS is characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as noise, touch, and emotional distress, which can set off muscle spasms. A... |
### Instruction:
Please help me with my brother with locked-in syndrome in for 3 years.Somebody please help. God bless .
### Response:
There is no cure for locked-in syndrome. Neromuscular stimulation of muscle reflexes using electrodes may activate some paralyzed muscles. Several devices to help communication are av... | Locked-In Syndrome (Treatment): There is no cure for locked-in syndrome, nor is there a standard course of treatment. A therapy called functional neuromuscular stimulation, which uses electrodes to stimulate muscle reflexes, may help activate some paralyzed muscles. Several devices to help communication are available. ... |
### Instruction:
congenital diaphragmatic hernia I need to know if CDH can be passed down to future generations. I just learned that this condition most likely caused the death of my first child back in 1971. I was then told it was merely a fluke. I had NO trauma during the full-term pregnancy, and I and my then hus... | congenital diaphragmatic hernia (Genetic Changes): Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mos... |
### Instruction:
Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional. I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family.
### Response:
Duchenne muscular dystrophy (DMD) i... | Duchenne muscular dystrophy: Duchenne muscular dystrophy (DMD) is a progressive form of muscular dystrophy that occurs primarily in males, though in rare cases may affect females. DMD causes progressive weakness and loss (atrophy) of skeletal and heart muscles. [1] Early signs of DMD may include delayed ability to sit,... |
### Instruction:
Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional. I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family.
### Response:
Duchenne muscular dystrophy lis a d... | Duchenne muscular dystrophy (Outlook (Prognosis)): Duchenne muscular dystrophy leads to progressively worsening disability. Death often occurs by age 25, typically from lung disorders. However, advances in supportive care have resulted in many men living much longer than this. |
### Instruction:
Duchenne Muscular Dystrophy. I am doing a research project on this genetic disease and I would like to know more about it from a professional. I am researching the mode of inheritance, symptoms, treatments/ support groups, and relative cost to family.
### Response:
Duchenne muscular dystrophy is caus... | Duchenne muscular dystrophy (Causes): Duchenne muscular dystrophy is a form of muscular dystrophy. It worsens quickly. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). How... |
### Instruction:
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned?
### Response:
Doctors are not sure what causes frozen shoulder. It is more likely to occur in people who have diabetes or had their shoulder immobilized for a long time due ... | Frozen shoulder (Causes): The bones, ligaments and tendons that make up your shoulder joint are encased in a capsule of connective tissue. Frozen shoulder occurs when this capsule thickens and tightens around the shoulder joint, restricting its movement. Doctors aren't sure why this happens to some people, although it'... |
### Instruction:
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned?
### Response:
It is not known what causes frozen shoulder. Risk factors include: diabetes, thyroid problems, hormonal changes, e.g., during menopause, shoulder disease, inju... | Frozen shoulder: Frozen shoulder is a condition in which the shoulder is painful and loses motion because of inflammation. The capsule of the shoulder joint has ligaments that hold the shoulder bones to each other. When the capsule becomes inflamed, the shoulder bones are unable to move freely in the joint. Most of t... |
### Instruction:
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned?
### Response:
Complications of the frozen shoulder include stiffness and pain that do not respond to treatment. If the shoulder is moved with force, the arm could break.
###... | What are the complications of Frozen shoulder?: Complications may include: - Stiffness and pain continue even with therapy - The arm can break if the shoulder is moved forcefully during surgery |
### Instruction:
We have 14 siblings in our family , at least 10 of us has had a frozen shoulder. We are wondering why? should we be concerned?
### Response:
Frozen shoulder is more likely to occur in people over 40, particularly women, and in those who have thyroid disease, diabetes, cardiovascular disease, tuber... | Frozen shoulder: Frozen shoulder, also known as adhesive capsulitis, is a condition characterized by stiffness and pain in your shoulder joint. Signs and symptoms typically begin gradually, worsen over time and then resolve, usually within one to three years. Your risk of developing frozen shoulder increases if you're ... |
### Instruction:
Genetic mutaion my son born with alopicia totalis and swealling around the eyes , we have done for him Whole Exome Sequencing , they identified a heterozygous likely pathogenic variant in the SOX18 gene, which supports the clinical diagnosis of hypotrichosis-lymphedema-telangiectasia syndrome , i woul... | What are the symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome?: What are the signs and symptoms of Hypotrichosis-lymphedema-telangiectasia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypotrichosis-lymphedema-telangiectasia syndrome. If the information is avai... |
### Instruction:
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease.
### Response:
Different types and stages of glaucoma have different symptoms. Open-angle glaucoma starts with patchy blind spots in peripheral or central vision, frequently in b... | Glaucoma (Symptoms): The signs and symptoms of glaucoma vary depending on the type and stage of your condition. For example: Open-angle glaucoma - Patchy blind spots in your side (peripheral) or central vision, frequently in both eyes - Tunnel vision in the advanced stages Acute angle-closure glaucoma - Severe headac... |
### Instruction:
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease.
### Response:
Glaucoma can damage the optic nerve due to increased pressure in the eye. Adults may have open-angle glaucoma, angle-closure glaucoma, also called closed-angle glau... | Glaucoma: Glaucoma is a group of eye conditions that can damage the optic nerve. This nerve sends the images you see to your brain. Most often, optic nerve damage is caused by increased pressure in the eye. This is called intraocular pressure. Watch this video about: Glaucoma Glaucoma is the second most ... |
### Instruction:
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease.
### Response:
Comprehensive dilated eye exam is needed to diagnose glaucoma. The tests include: visual acuity, visual field test that measures peripheral vision, examination of r... | Facts About Glaucoma (How is glaucoma detected?): Glaucoma is detected through a comprehensive dilated eye exam that includes the following: Visual acuity test. This eye chart test measures how well you see at various distances. Visual field test. This test measures your peripheral (side vision). It helps your eye care... |
### Instruction:
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease.
### Response:
Most people have no symptoms of open-angle glaucoma, which causes slow loss of side (peripheral) vision. The symptoms of angle-closure glaucoma steadily become wors... | Glaucoma (Symptoms): OPEN-ANGLE GLAUCOMA - Most people have no symptoms. - Once vision loss occurs, the damage is already severe. - Slow loss of side (peripheral) vision (also called tunnel vision). - Advanced glaucoma can lead to blindness. ANGLE-CLOSURE GLAUCOMA Symptoms may come and go at first, or s... |
### Instruction:
Can you mail me patient information about Glaucoma, I was recently diagnosed and want to learn all I can about the disease.
### Response:
Open-angle glaucoma occurs due to slow increase in eye pressure over time, and is the most common type of glaucoma. Its cause is unknown, but it tends to run in the... | Glaucoma (Causes): Glaucoma is the second most common cause of blindness in the United States. There are four major types of glaucoma: - Open-angle glaucoma - Angle-closure glaucoma, also called closed-angle glaucoma - Congenital glaucoma - Secondary glaucoma The front part of the eye is filled with a cl... |
### Instruction:
Hello, I have a scoliosis problem plz help me I want its treatment I can send my x.ray also
### Response:
Severe scoliosis might require surgery. The most common type of scoliosis surgery is spinal fusion, in which surgeons connect two or more vertebrae together, so they can't move independently. P... | Scoliosis: Scoliosis is a sideways curvature of the spine that occurs most often during the growth spurt just before puberty. While scoliosis can be caused by conditions such as cerebral palsy and muscular dystrophy, the cause of most scoliosis is unknown. Most cases of scoliosis are mild, but some children develop spi... |
### Instruction:
Hello, I have a scoliosis problem plz help me I want its treatment I can send my x.ray also
### Response:
Most people with idiopathic scoliosis do not need treatment. But you should still be checked by a doctor about every 6 months. For people with scoliosis of unknown causes and who are still growi... | Scoliosis: Scoliosis is an abnormal curving of the spine. Your spine is your backbone. It runs straight down your back. Everyone's spine naturally curves a bit. But people with scoliosis have a spine that curves too much. The spine might look like the letter C or S. Most of the time, the cause of scoliosis is unknown. ... |
### Instruction:
I am 23yr boy,i have knock knees i want treatment. Please help me.
### Response:
Surgery may be considered for knock knees that are severe and continue beyond late childhood. The results of the surgery are good in most cases. Rare complications include difficulty walking and self-esteem changes relate... | Knock knees: Knock knees are condition in which the knees touch, but the ankles do not touch. The legs turn inward. Infants start out with bowlegs because of their folded position while in their mother's womb. The legs begin to straighten once the child starts to walk (at about 12 to 18 months). By age 3, the child bec... |
### Instruction:
I am 23yr boy,i have knock knees i want treatment. Please help me.
### Response:
Rare complications of knock knees include difficulty walking and self-esteem changes related to appearance of the knees. Untreated knock knees can lead to early arthritis of the knee.
### Response:
| Knock knees (Possible Complications): Complications may include: - Difficulty walking (very rare) - Self-esteem changes related to cosmetic appearance of knock knees - If left untreated, knock knees can lead to early arthritis of the knee |
### Instruction:
I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you.
### Response:
Kartagener syndrome can be caused by changes (mutations) in many different genes . These genes encode proteins that are ... | Kartagener syndrome: Kartagener syndrome is a type of p that is also characterized by situs inversus totalis (mirror-image reversal of internal organs ). The signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertilit... |
### Instruction:
I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you.
### Response:
Kartagener syndrome can be caused by changes (mutations) in many different genes . These genes encode proteins that are ... | Kartagener syndrome (Cause): Kartagener syndrome can be caused by changes ( mutations ) in many different genes . These genes encode proteins that are important to the structure and function of cilia. Cilia are tiny, hair-like structures that are found on the surface of cells in various parts of the body such as the li... |
### Instruction:
I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you.
### Response:
Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must hav... | Kartagener syndrome (Inheritance): Kartagener syndrome is inherited in an autosomal recessive manner. [4] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell . The parents of an affected person usually each carry one mutated copy of the gene and are referred... |
### Instruction:
I am suffering from Kartagener's syndrome and wanted information from you or from Dr. . for this syndrome. (About fertility) and if possible other symptoms. Thank you.
### Response:
Kartagener syndrome is characterized by primary ciliary dyskinesia and situs inversus totalis. In people affected by si... | Kartagener syndrome (Symptoms): Kartagener syndrome is characterized by p and situs inversus totalis. In people affected by situs inversus totalis, the internal organs including the heart, liver, spleen and intestine are on the opposite side of the body. Although the internal organs are abnormally placed, this conditio... |
### Instruction:
know more about My Daughter have Distal renal tubular acidosis. we are from Mexico, and we ae woundering if can send to us more infomation. maybe you can reccommend to us a association???? i don?t know
### Response:
SLC4A1-associated distal renal tubular acidosis can have different patterns of inherit... | SLC4A1-associated distal renal tubular acidosis (Inheritance Pattern): SLC4A1-associated distal renal tubular acidosis can have different patterns of inheritance. It is usually inherited in an autosomal dominant pattern, which means one copy of the altered SLC4A1 gene in each cell is sufficient to cause the disorder. I... |
### Instruction:
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated.
### Response:
Lewy body ... | Lewy body dementia: Lewy body dementia is one of the most common forms of progressive dementia. People affected by this condition may experience a variety of symptoms such as changes in alertness and attention; hallucinations; problems with movement and posture; muscle stiffness; confusion; and/or memory loss. Although... |
### Instruction:
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated.
### Response:
Most cases... | Lewy body dementia (Inheritance): Most cases of Lewy body dementia are not thought to be inherited . The condition generally occurs sporadically in people with no family history of the condition. [4] Rarely, the condition can affect more than one family member. Some of these cases appear to be due to single gene change... |
### Instruction:
I have been researching Lewy Body Disease and have a few questions.1) Is this disease hereditary2) Does alcoholism play a role in the beginning process of this disease3) What are the initial symptoms of the diseaseAny information you could forward would be greatly appreciated.
### Response:
Lewy body ... | Lewy body dementia (Symptoms): Lewy body dementia signs and symptoms may include: - Visual hallucinations. Hallucinations may be one of the first symptoms, and they often recur. They may include seeing shapes, animals or people that aren't there. Sound (auditory), smell (olfactory) or touch (tactile) hallucinations are... |
### Instruction:
I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned a... | Tay-Sachs disease (Treatment): There is no cure for Tay-Sachs disease, but some treatments can help in managing symptoms. The goal of treatment is support and comfort. Supportive treatments include: - Medication. To reduce your child's symptoms, a number of prescription medications are available, including anti-seizure... |
### Instruction:
I have a list of questions about Tay sachs disease and clubfoot 1. what is TSD/Clubfoot, and how does it effect a baby 2. what causes both? can it be prevented, treated, or cured 3. How common is TSD? how common is Clubfoot 4. How can your "agency" help a women/couple who are concerned a... | Tay-Sachs Disease: Tay-Sachs disease is a inherited metabolic disease caused by the harmful buildup of lipids (fatty materials such as oils and acids) in various cells and tissues in the body. It is part of a group of genetic disorders called the GM2 gangliosidoses. Tay-Sachs and its variant form are caused by a defi... |
### Instruction:
My daughter has menkes syndrome and would like to know how to go about. Thx
### Response:
Menkes syndrome is a disorder that affects copper levels in the body. The symptoms include kinky hair, failure to thrive, deterioration of the nervous system, weak muscle tone (hypotonia), sagging facial features... | What is Menkes syndrome?: Menkes syndrome is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to gain weight and grow at the expected rate (failure to thrive); and deterioration of the nervous system. Additional signs and symptoms include weak muscle tone (hypotonia)... |
### Instruction:
My daughter has menkes syndrome and would like to know how to go about. Thx
### Response:
Symptoms of Menkes syndrome include bone spurs, brittle kinky hair, feeding difficulties, irritability, lack of muscle tone, floppiness, low body temperature, mental deterioration, pudgy rosy cheeks, seizures, an... | Menkes syndrome (Symptoms): Symptoms of Menkes syndrome are: - Bone spurs - Brittle, kinky hair - Feeding difficulties - Irritability - Lack of muscle tone, floppiness - Low body temperature - Mental deterioration - Pudgy, rosy cheeks - Seizures - Skeletal changes |
### Instruction:
My daughter has menkes syndrome and would like to know how to go about. Thx
### Response:
In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it.
### Response:
| What is Menkes syndrome?: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism." |
### Instruction:
My daughter has menkes syndrome and would like to know how to go about. Thx
### Response:
Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intestines into the bloodstream for use in other areas. As a result, the brain ... | Menkes syndrome: In Menkes syndrome, cells in the body can absorb copper, but they are unable to release it. It is one of several conditions called an "inborn error of metabolism." Menkes syndrome is caused by a defect in the ATP7A gene. The defect makes it hard for the body to distribute copper in food from the intest... |
### Instruction:
My daughter has menkes syndrome and would like to know how to go about. Thx
### Response:
Mutations in the ATP7A gene cause Menkes syndrome. These mutations prevent the production of functional ATP7A protein. As a result, the absorption of copper from food is impaired, and copper is not supplied to ce... | ATP7A gene (Menkes syndrome): Researchers have identified more than 150 mutations in the ATP7A gene that cause Menkes syndrome. Many of these mutations delete part of the gene and likely result in a shortened ATP7A protein. Other mutations insert additional DNA building blocks (nucleotides) into the gene or change sing... |
### Instruction:
Please let me know where I can get literature on Cardiac amyloidosis. My uncle died yesterday from this disorder. Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.
### Response:
Some people with cardiac amyloidosis may have no ... | Cardiac amyloidosis (Symptoms): Some people may have no symptoms. When present, symptoms may include: - Excessive urination at night - Fatigue, reduced exercise ability - Palpitations (sensation of feeling heartbeat) - Shortness of breath with activity - Swelling of the abdomen, legs, ankles, or other... |
### Instruction:
Please let me know where I can get literature on Cardiac amyloidosis. My uncle died yesterday from this disorder. Since this is such a rare disorder, and to honor his memory, I would like to distribute literature at his funeral service.
### Response:
Cardiac amyloidosis ("stiff heart syndrome") occu... | Cardiac amyloidosis (Causes): Amyloidosis is a group of diseases in which clumps of proteins called amyloids build up in body tissues. Over time, these proteins replace normal tissue, leading to failure of the involved organ. There are many forms of amyloidosis. Cardiac amyloidosis ("stiff heart syndrome") occurs whe... |
### Instruction:
milroy disease hello , my daughter has lymph edema her both legs and left hand is swelling , this problem started when she was of 3 months now she is 16 months , her swelling is growing day by day , im clue less what to do and what kind of treatment i should do plz help and suggest us
### Response:
M... | Milroy disease: Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically... |
### Instruction:
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks
### Response:
There is no cure for Ellis-van Creve... | Ellis-van Creveld syndrome (Treatment): Treatment depends on which body system is affected and the severity of the problem. The condition itself is not treatable, but many of the complications can be treated. |
### Instruction:
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks
### Response:
Ellis-van Creveld syndrome is an inh... | EVC gene: The EVC gene provides instructions for making a protein whose function is unclear. However, it appears to be important for normal growth and development, particularly the development of bones and teeth. The EVC protein is found in primary cilia, which are microscopic, finger-like projections that stick out fr... |
### Instruction:
more information in relation to Ellis van creveld syndrome Specifically in later life can they have children has it ever been reported any researchcarried out and just as much information as possible to help my understanding of what I have Many thanks
### Response:
Ellis-van Creveld syndrome is an inh... | Ellis-van Creveld syndrome (Description): Ellis-van Creveld syndrome is an inherited disorder of bone growth that results in very short stature (dwarfism). People with this condition have particularly short forearms and lower legs and a narrow chest with short ribs. Ellis-van Creveld syndrome is also characterized by t... |
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