Wilson Disease

Disease Overview

Wilson disease is a rare genetic disorder characterized by excess copper stored in various body tissues, particularly the liver, brain and corneas of the eyes. The disease is progressive and, if left untreated, it may cause liver (hepatic) disease, central nervous system dysfunction and death. Early diagnosis and treatment may prevent serious long-term disability and life-threatening complications.

Wilson disease is caused by changes (variants) of the ATP7B gene. Inheritance is autosomal recessive.

Treatment is lifelong and aims to reduce the amount of copper that has accumulated in the body and to maintain normal copper levels thereafter.

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Synonyms

• hepatolenticular degeneration
• lenticular degeneration, progressive

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Signs & Symptoms

Wilson disease is a rare genetic disorder that affects the body’s ability to process and eliminate copper, leading to copper buildup in vital organs like the liver and brain. While the disease usually starts with liver problems in childhood, many symptoms may not appear until the teenage years or early adulthood.

For many people, especially children, Wilson disease first presents as liver disease. The symptoms can range from mild to severe, including:

• Yellowing of the skin and eyes due to liver dysfunction (jaundice)
• Swelling in the legs or abdomen due to fluid retention (edema)
• Fluid buildup in the abdomen (ascites)
• Enlarged veins in the esophagus that can bleed (esophageal varices)
• Excessive tiredness (fatigue)
• Tendency to bruise or bleed more easily

Some children may have asymptomatic liver injury, which means they show no symptoms but have abnormal liver tests. Over time, this can lead to cirrhosis scarring of the liver (cirrhosis) or even acute liver failure, a serious condition that requires immediate medical attention.

In teenagers and adults, the disease may shift to affect the brain and nervous system, often presenting with neurological or psychiatric symptoms:

• Shaking (tremor)
• Involuntary movements, which are uncontrolled movements or muscle contractions
• Difficulty swallowing (dysphagia)
• Slurred or poorly articulated speech (dysarthria)
• Lack of coordination with difficulty with balance and movement (ataxia)
• Stiffness or tightness in the muscles (muscle rigidity)
• Abnormal body postures due to muscle spasms (dystonic postures)

Most people affected with Wilson Disease who have neurological symptoms will also have Kayser-Fleischer rings, which are rusty-brown rings around the corneas of the eyes caused by copper deposits. These can be seen by an ophthalmologist.

Psychiatric symptoms can vary widely and may include:

• Depression
• Personality changes both in mood and behavior
• Cognitive issues such as difficulty concentrating or thinking clearly
• Psychiatric symptoms can be confused with schizophrenia or may be misdiagnosed as substance abuse

In most people, psychiatric symptoms appear alongside neurological symptoms or develop within three years of their onset.

Some women (especially young women) present with menstrual and hormonal issues due to liver dysfunction, leading to:

• Delayed onset of menstruation
• Absence of menstruation (amenorrhea)
• Menstrual irregularities
• Difficulty conceiving (infertility)
• Increased risk of pregnancy loss (miscarriage)

Wilson disease can also lead to other health complications including:

• Kidney stones caused by the buildup of copper in the kidneys
• Renal tubular damage which can affect the kidney function
• Premature arthritis (early onset of joint problems)
• Thinning of bones (osteoporosis) making them more fragile
• Bony outgrowths at large joints (osteophytes)
• Narrowing of the space between joints leading to stiffness and pain

Liver disease is the most common first sign, but some children may also experience neuropsychiatric symptoms.

During adolescence, liver disease can become severe, but neurological and psychiatric symptoms may also develop. Liver failure can occur more frequently in adolescence, particularly in young women.

In adults, neuropsychiatric symptoms tend to dominate, though liver disease is still common. Scarring of the liver (cirrhosis) is present in about 38% of children and 58% of adults at diagnosis.

Females are more likely to present with liver disease, especially in childhood while males more likely to develop neurological symptoms as they age.

As commented before, some people with Wilson disease may not show symptoms for many years or might never develop noticeable symptoms. Many people with Wilson disease are diagnosed because of abnormal liver function tests, even before other symptoms appear.

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Causes

Wilson disease is caused by changes (variants) of the ATP7B gene, which plays an important role in the movement of excess copper from the liver to the bile to eventually be excreted from the body through the intestines. More than 300 different variants of the ATP7B gene have been identified.

Wilson disease is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.

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Affected populations

Wilson disease is a rare disorder that affects males and females in equal numbers. The disease is found in all races and ethnic groups. Although estimates vary, it is believed that Wilson disease occurs in approximately one in 30,000 to 40,000 people worldwide. Approximately one in 90 people may be carriers of a gene variant for the disease. Although only about 2,000-3,000 people have been diagnosed in the United States, other affected individuals may be misdiagnosed with other neurological, liver or psychiatric disorders. According to one estimate, there may be 9,000 people affected by Wilson disease in the United States.

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Disorders with Similar Symptoms

Symptoms of the following disorders can be similar to those of Wilson disease. Comparisons may be useful for a differential diagnosis:

If the patient presents with mild liver disease, the most common mistaken diagnosis is viral hepatitis. Viral antigen and copper studies should differentiate. If cirrhosis is well established and the patient drinks alcohol, an incorrect diagnosis of alcoholic cirrhosis is often made. Copper studies should differentiate. If the patient presents with tremor, an incorrect diagnosis of essential tremor, or early Parkinson’s disease may be made. Again, copper studies should differentiate. If psychiatric symptoms are pronounced, an incorrect diagnosis of substance abuse may be made. Again, copper studies should differentiate.

Other disorders which are occasionally mistaken for Wilson are as follows:

Sydenham chorea is an acute, usually self-limited disorder that occurs after about 5 to 10 percent of people with rheumatic fever. The disorder typically begins with jerky, uncontrollable, non-repetitive muscle movements on one or both sides of the body. Patients develop rapid, involuntary movements that can affect the manner or style of walking, arm movements and speech. Clumsiness and facial grimacing are common.

Primary biliary cholangitis is a chronic, progressive disease of the liver thought to be related to abnormalities in the immune system. The initial symptoms of this disorder usually include persistent, generalized itching, dark urine, pale stools and jaundice. Eventually, excessive amounts of copper accumulate in the liver and fibrous or granular hardening occurs in the soft tissue of the liver.

Heavy metal poisoning is generally caused by industrial exposure to a variety of toxins such as copper, aluminum, arsenic or mercury. Depending on the type and duration of exposure, injury may occur in the lungs, nervous system, skin or digestive system. The symptoms of the poisoning vary according to the type of metal that was involved in overexposure. These include headache, nausea, dizziness, painful joints and muscles, delirium, seizures and a wide range of other symptoms.

Neuroacanthocytosis is a very rare genetic disorder of the neuromuscular and blood systems. Abnormal blood cells (acanthocytosis) are produced and there is a wasting away (atrophy) of muscles. The major symptom of this disorder is uncontrolled rapid muscular movements (amyotrophic chorea). Initially there are subtle involuntary movements (tics) of the face, mouth and tongue. These slowly progress to severe, uncontrolled, rapid motions (chorea) of the trunk and limbs. Approximately 50 percent of people with Levine-Critchley syndrome have seizures.

Huntington disease is an inherited, progressively degenerative neurological disorder. Initially there are personality changes and rapid jerky muscle movements that are involuntary. In time speech and memory become impaired and involuntary muscle movements become more frequent and pronounced. As the disease progresses there is a further loss of cognitive abilities and dementia. The symptoms of this disorder usually begin during adulthood generally after the age of forty.

Tourette syndrome is a neurologic movement disorder that is characterized by repetitive motor and vocal tics. The first symptoms usually occur during childhood are rapid eye blinking or facial grimaces. Symptoms may also include involuntary movements of the extremities, shoulders, face and voluntary muscles. Some people with Tourette syndrome may vocalize involuntarily; these may be inarticulate sounds or words. Tourette syndrome is not a progressive or degenerative disorder; symptoms tend to be variable and follow a chronic waxing and waning course. Onset usually occurs before the age of 16.

Cerebral palsy is a neuromuscular disorder that is the result of an injury to the brain during early development or at birth. The major symptom of this disorder is a lack of muscle control and coordination. Cerebral palsy is not a progressive disorder. Generally, infants may exhibit developmental delays during the first or second year and may have muscle weakness and abnormal muscle tone. The coordination and speech difficulties associated with Wilson’s disease can resemble the symptoms of cerebral palsy.

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Diagnosis

Wilson disease may be diagnosed based upon a thorough clinical evaluation, a complete patient history and specialized tests.

Early diagnosis and treatment are essential to prevent permanent damage to the liver, brain and other organs.

• In children, liver disease often appears first, with symptoms such as yellowing of the skin, swelling, and fatigue.
• In teenagers and young adults, neurological symptoms such as tremors, speech difficulties and personality changes may develop.
• In some people, Wilson disease can present as an hemolytic anemia known as Coombs-negative (Coombs negative means that no antibodies are attached to red blood cells and hemolytic means that blood cells are broken down) which is usually an autoimmune condition, sometimes accompanied by acute liver failure, particularly in young females.

Most children with Wilson disease have liver disease, therefore, doctors should consider this diagnosis in any child over one year old who shows signs of liver dysfunction, though it is rare before the age of five.

While neurological symptoms, such as tremors or difficulty speaking, typically appear later in life (around the second or third decade), they can develop as early as six years of age. Wilson disease should also be considered in adolescents with unexplained cognitive or psychiatric issues. It’s important to identify the disease early, especially because many affected people may show mild symptoms or none during the early stages of the disease.

The diagnosis of Wilson disease involves several steps that include clinical evaluation, specialized blood and urine tests, genetic testing and sometimes a liver biopsy.

Suggested steps for diagnosis include:

Step 1:

• Clinical evaluation where doctors review the person’s symptoms, medical history and perform a physical exam
• The physical exam may include the use of a slit-lamp microscope for examination of the eyes looking for the presence of the Kayser-Fleischer ring (a hallmark of the disease), rusty-brown deposits of copper around the corneas.
  • The Kayser-Fleischer rings are less common in affected children with liver disease alone but are almost always present in people with Wilson disease who have neurological symptoms.
• Liver tests, also known as liver function tests or hepatic panels are blood tests that measure the levels of various proteins and enzymes to assess liver’s health checking for liver dysfunction, which is common in children with Wilson disease.
• Copper metabolism tests including:

1. • Ceruloplasmin test: measures the levels of ceruloplasmin, a protein that binds to copper

1. • • Low levels (below 20 mg/dL) may indicate Wilson disease

1. • 24-hour urine copper test: Measures the amount of copper excreted in urine
     1. Higher than normal levels (greater than 40 μg/24 hours) can indicate Wilson disease, but sometimes this may be normal in children

Step 2:

• Genetic testing: If initial tests suggest Wilson disease, doctors indicate genetic testing which can identify variants in the ATP7B gene that cause Wilson disease.
  • A complete genetic analysis can detect up to 95%-98% of affected people and family members should also be tested to determine if they are gene carriers or affected.
    • First-degree relatives (parents, siblings and children) should be offered genetic testing.

Step 3: (if needed)

• If the genetic tests do not provide clear results, a liver biopsy may be performed to measure copper levels in the liver.
  • A result of more than 250 μg of copper per gram of liver tissue is indicative of Wilson disease.

Additional diagnostic tests may include:

• D-penicillamine challenge test: In some children with normal urine copper levels, this test may be used. It involves taking d-penicillamine, which increases copper excretion and measuring the urine copper afterward.
• Non-ceruloplasmin-bound copper (NCC): This test measures the amount of copper that is not bound to ceruloplasmin and is used in cases of acute liver failure or hemolysis (breakdown of red blood cells).

Ultrasound and other non-invasive tools like transient elastography may be used to assess liver damage, including the presence of fibrosis (scarring of the liver).

The exchangeable copper (CuEXC) is a promising new test that measures unbound copper in the blood independently of ceruloplasmin levels. However, it is currently available only in research settings.

As none of the available laboratory tests are completely accurate and specific for Wilson disease and sometimes the symptoms are not present, in 2001, a diagnostic score (known as Ferenci score), based on clinical manifestations, laboratory tests, histology (tissue analysis) and genetics was established and proved to have good diagnostic accuracy, especially in unclear cases.

The Wilson Disease Prognostic Index is used to evaluate patients with acute liver failure and predict the need for a liver transplant (LT). It considers factors like bilirubin levels, liver enzymes, INR (a measure of blood clotting), white blood cell count and albumin.

Since many of the symptoms can overlap with other conditions, a high level of suspicion is necessary, especially in children and adolescents with unexplained liver or neurological issues.

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Standard Therapies

Treatment

Treatment focuses on reducing copper levels to prevent the progression of the disease and reversing symptoms caused by copper buildup in organs like the liver and brain. Early diagnosis and adequate treatment are essential for improving outcomes and preventing severe complications. It is important to understand that treatment is lifelong.

Treatment for Wilson disease depends on the stage of the disease:

1. Symptomatic treatment: For individuals with symptoms, treatment aims to reduce copper levels quickly to stop the damage.
2. Maintenance therapy: After copper levels are reduced, long-term treatment is necessary to keep copper levels at non-toxic levels and prevent future buildup.
3. Preventive maintenance: In patients who are diagnosed before symptoms develop, maintenance therapy begins immediately to prevent the onset of symptoms.

Wilson disease is treated using three main types of medications that work by either removing copper from the body or preventing its absorption from food.

• Chelating agents: These drugs bind to copper and help the body eliminate it through urine. Common chelators include:
  • Penicillamine (Cuprimine): Increases urinary copper excretion but has a higher risk of side effects, including fever, rash, joint pain and, in some people, worsening neurological symptoms.
  • Trientine dihydrochloride (Syprine): Also helps remove copper via urine with fewer side effects than penicillamine.

• • • Syprine is indicated for people who do not tolerate penicillamine.

• • Trientine tetrahydrochoride (Cuvrio) was approved by the FDA for Wilson disease treatment in 2022.

• • • Cuvrior is indicated for the treatment of adults with stable Wilson disease who are de-coppered but who tolerate penicillamine

A concerning side effect for people treated with either D-penicillamine or trientine is a rapid clinical worsening of neurologic symptoms within months after treatment onset, possibly caused by rapid mobilization of large amounts of copper.

• Zinc salts (zinc acetate – Galzin): Zinc blocks the intestines from absorbing copper from food. It’s often used as long-term maintenance therapy after initial copper removal or for people who do not have any symptoms.
  • Zinc is preferred in children and pregnant women due to its minimal side effects.
• Tetrathiomolybdate: This medication may be effective for treating neurological symptoms as it prevents copper absorption and neutralizes toxic copper in the blood, but it is currently an experimental treatment and not yet commercially available.

For mild to moderate liver disease, a combination of trientine and zinc is often used for 4-6 months followed by maintenance therapy with either trientine or zinc alone. Penicillamine can also be used but is less preferred due to its side effects.

Regular follow-up is essential to ensure that copper levels remain controlled and to avoid side effects from the medications. Monitoring includes 24-hour urine copper test (measures how much copper is being excreted in the urine), non-ceruloplasmin-bound copper (a blood test that measures the amount of toxic copper not bound to ceruloplasmin), liver function tests to monitor liver health and check for signs of improvement or worsening and urine tests for people on chelating agents like penicillamine or trientine (urine tests are used to detect any protein or blood cells, which could indicate kidney issues).

Stopping the treatment can lead to a rapid buildup of copper and life-threatening complications, so it’s critical for the affected people to adhere to their medication regimen.

By following the treatment plan and adhering to medication, most people affected with Wilson disease can lead healthy and active lives. However, diagnosis is often delayed and there is frequently a lack of adherence to the necessary lifelong treatment.  Even in people with clinically stable and well-managed disease, Wilson disease may result in a decreased quality of life.

For people with severe liver failure or acute liver failure, a liver transplant may be the only option for long-term survival. Transplants can restore normal liver function and stop the progression of Wilson disease. However, the need for a liver transplant in neurological cases is controversial and this has to be decided on a case-by-case basis.

The Wilson Disease Association offers updates in treatment and advances as well as many useful resources for patients and health professionals.

The American Association for the Study of Liver Diseases (AASLD) developed  recommendations for Wilson disease treatment that are available in the article: entitled: Wilson disease: a summary of the updated AASLD Practice Guidance. Note that this article has many medical terms.

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Clinical Trials and Studies

There is ongoing research to find better treatments for Wilson disease, including:

• Gene therapy: Researchers are exploring gene therapy to correct the gene variant that causes Wilson disease.
• Pharmacological approaches: Scientists are studying ways to repair the function of the altered ATP7B gene with drugs like curcumin and stress kinase inhibitors.

The Wilson Disease Association has designated several Wilson Disease Centers of Excellence that you can see in the following link: Wilson disease centers of excellence.

The Wilson Disease Association has also a Patient Registry Study  Patient registries and databases are key instruments to develop clinical research in the field of rare diseases and improve patient care as well as healthcare planning and policy.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

TEXTBOOKS
Brewer GJ. Wilson Disease. In: NORD Guide to Rare Disorders. Philadelphia, PA: Lippincott Williams & Wilkins; 2003:506.

Brewer GJ. Wilson’s Disease: A Clinician’s Guide to Recognition, Diagnosis, and Management. Kluwer Academic Publishing; Boston, 2001.

Brewer GJ. Wilson’s Disease for the Patient and Family: A Patient’s Guide to Wilson’s Disease and Frequently Asked Questions about Copper. Xlibris, Philadelphia; 2001.

Schilsky ML. Wilson’s Disease. In: Diseases of the Liver. Philadelphia, PA: Lippincott-Raven; 1999:1091-1106.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:56-8.

Kanski JJ., ed. Clinical Ophthalmology, 4th ed. Woburn, MA: Butterworth-Heinemann; 1999:142.

Fauci AS, et al., eds. Harrison’s Principles of Internal Medicine, 14th Ed. New York, NY: McGraw-Hill, Inc; 1998:2166-69.

Adams, RD, et al., eds. Principles of Neurology. 6th ed. New York, NY: McGraw-Hill, Companies; 1997:969-71.

Bennett JC, Plum F., eds. Cecil Textbook of Medicine. 20th ed. Philadelphia, PA: W.B. Saunders Co; 1996:1131-2.

Schilsky ML. Wilson’s Disease — Genetic Basis of Copper Toxicity and Natural History. In: Seminars in Liver Disease. New York, NY: Thieme Medical Publishers, Inc.: 1996:83-95.

Behrman RE, ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1139-40.

Scriver CR, et al., eds. The Metabolic and Molecular Basis of Inherited Disease. 7th Ed. New York, NY; McGraw-Hill Companies, Inc; 1995:2217-23.

Menkes JH., au., Pine JW, et al., eds. Textbook of Child Neurology, 5th ed. Baltimore, MD: Williams & Wilkins; 1995:118-25.

Leevy CM, et al., eds. Diseases of the Liver and Biliary Tract: Standardization of Nomenclature, Diagnostic Criteria and Prognosis. New York, NY: Raven Press; 1994:112-3.

JOURNAL ARTICLES
Kirk FT, Munk DE, Swenson ES, Quicquaro AM, Vendelbo MH, Larsen A, Schilsky ML, Ott P, Sandahl TD. Effects of tetrathiomolybdate on copper metabolism in healthy volunteers and in patients with Wilson disease. J Hepatol. 2024 Apr;80(4):586-595. doi: 10.1016/j.jhep.2023.11.023

Tudor Lucian and Alina Grama. New developments in the management of Wilson’s disease in children. Global Pediatrics 8. June 2024, 100142. https://www.sciencedirect.com/science/article/pii/S2667009724000101

Alkhouri N, Gonzalez-Peralta RP, Medici V. Wilson disease: a summary of the updated AASLD Practice Guidance. Hepatol Commun. 2023;7(6):e0150. Published 2023 May 15. doi:10.1097/HC9.0000000000000150

Patel AH, Ghattu M, Mazzaferro N, Chen A, Catalano K, Minacapelli CD, Rustgi V. Demographics and outcomes related to Wilson’s disease patients: A nationwide inpatient cohort study. Cureus. 2023 Sep 5;15(9):e44714. doi: 10.7759/cureus.44714.

Abuduxikuer K, Wang JS. Zinc mono-therapy in pre-symptomatic Chinese children with Wilson disease: a single center, retrospective study. PLoS ONE 9(1):2014. e86168. https://doi.org/10.1371/journal.pone.0086168

Brewer, GJ. Treatment of Wilson’s Disease: Our patients deserve better. Expert Opin on Orphan Drugs 2014;2:12.

El-Youssef M, Wilson disease. Mayo Clin Proc. 2003;78:1126-36.

Ferenci P, et al., Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23:139-42.

Pellecchia MT, et al., Clinical presentation and treatment of Wilson’s disease: a single-centre experience. Eur Neurol. 2003;50:48-52.

Brewer GJ, et al., Treatment of Wilson disease with ammonium tetrathiomolybdate: III. Initial therapy in a total of 55 neurologically affected patients and follow-up with zinc therapy. Arch Neurol. 2003;60:379-85.

Bacon BR, et al., New knowledge of genetic pathogenesis of hemochromatosis and Wilson’s disease. Adv Intern Med. 1999;44:91-116.

Sturniolo GC, et al., Zinc therapy increases duodenal concentrations of metallothionein and iron in Wilson’s disease patients. Am J Gastroenterol. 1999;94:334-38.

Schaefer M, et al., Hepatocyte-specific localization and copper-dependent trafficking of the Wilson’s disease protein in the liver. 1999;276:639-46.

Brewer GJ, et al., Treatment of Wilson’s disease with zinc: XV. Long-term follow-up studies. J Lab Clin Med. 1998;132:264-78.

Brewer GJ, et al., Treatment of Wilson disease with ammonium tetrathiomolybdate. Arch Neurol. 1996;53:1017-25.

Demirkiran M, et al., Neurologic presentation of Wilson disease without Kayser-Fleischer rings. Neurology. 1996;46:1040-3.

Scheinberg IH, et al., Treatment of the neurologic manifestations of Wilson’s disease. Arch Neurol. 1995; 52:339-40.

Schilsky ML, et al., Hepatic transplantation for Wilson’s disease: indication and outcome. Hepatology. 1994;19:583-7.

Yarse JC, et al., Wilson’s disease: current status. Am J Med. 1992;92:643-54.

Brewer GJ, et al., Initial therapy of patients with Wilson’s disease with tetrathiomolybdate. Arch Neurol. 1991;48:42-7.

Tankanow RM, Pathophysiology and treatment of Wilson’s disease. Clin Pharm. 1991;10:839-49.

Schilsky ML, et al., Prognosis of Wilsonian chronic active hepatitis. Gastroenterology. 1991;100:762-7.

Woods SE, Wilson’s disease. Am Family Physician. 1989;40:171-8.

INTERNET
Online Mendelian Inheritance in Man (OMIM). Wilson Disease. Entry No: 277900. Last Edited 09/23/2024. Available at: Entry – #277900 – WILSON DISEASE; WND – OMIM Accessed Nov 7, 2024.

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Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORD’s mission.

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Patient Organizations

Wilson Disease Association

NORD Member

Email: [email protected]

Related Rare Diseases: Wilson Disease

https://rarediseases.org/organizations/wilson-disease-association/

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American Liver Foundation

Fax: 212-483-8179

Related Rare Diseases: Hepatitis D, Fibrolamellar Carcinoma, Hepatocellular Carcinoma, ...

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NIH/National Institute of Neurological Disorders and Stroke

Phone: 301-496-5751 Fax: 301-402-2186

Related Rare Diseases: MOG Antibody Disease, Aromatic L-Amino Acid Decarboxylase Deficiency, Miller Fisher Syndrome, ...

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More Information

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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