Huntington's disease
Fatal inherited neurodegenerative disorder with motor, cognitive, and psychiatric symptoms.
Huntington's disease is an inherited neurological illness that causes involuntary movements, severe emotional disturbance, and cognitive decline.[1] In the United States alone, about 30,000 people have HD, and 75,000 people carry the abnormal gene that will cause them to develop the disease.[1] There is no cure for this fatal disease.[1]
Quick Facts
- Field
- Neurology, Medical Genetics
- Symptoms
- Problems with motor skills including coordination and gait
- mood
- and mental abilities
- Complications
- Pneumonia
- heart disease
- physical injury from falls
- suicide
- Duration
- Long term
- Causes
- Genetic (inherited or new mutation)
- Diagnosis
- Genetic testing
- Differential
- Sydenham's chorea
- benign hereditary chorea
- lupus
- paraneoplastic syndrome
- Wilson's disease
- Treatment
- Supportive care
Facts from the source article.
Key facts and history
In 1993, scientists finally isolated the HD gene on chromosome 4.[1] A person who inherits the HD gene, and survives long enough, will sooner or later develop the disease.[1] If the child does not inherit the defective gene, the child will not get the disease nor pass the gene on to subsequent generations.[1] The 1993 discovery of the gene jump-started research on this devastating disease.[1]
Research directions include studying the HD gene to better understand how it causes disease.[1] Scientists are also breeding laboratory animals to duplicate the clinical features of HD.[1] American physician Charles Oscar Waters provided the first known account of the disease in 1841.[2] In 1872, American physician George Huntington gave a more detailed description of the condition.[2]
HD is produced by a single abnormal gene, and a child requires only one copy of that gene from either parent to develop the disease.[1]
What the research sources say
The Genome.gov account states that UC Irvine researchers believe they have discovered how the genetic mutation alters chemical pathways to cause the disease.[1] By identifying these changes, researchers believe they may have found an effective way to slow or prevent the disease.[1] This could speed up human trials of the drug in Huntington's disease patients.[1] The discovery of the HD gene led to a genetic test to make or confirm the diagnosis of Huntington's disease.[1]
Individuals consider genetic testing to confirm a diagnosis when clear symptoms are present and there is a documented family history of HD.[1] Others who have a parent with the disease elect to be tested to resolve uncertainty about their future.[1] Prospective parents consider prenatal testing when one parent has been diagnosed with Huntington's disease or has been found to carry the gene.[1]
References
- "About Huntington's Disease", Genome.gov. facts only, no text reused. genome.gov
- Wikipedia, "Huntington's disease" (CC BY-SA 4.0), which cites: "Chorea: A Journey through History", Tremor and Other Hyperkinetic Movements, 2015; "Chorea: A Journey through History", Tremor and Other Hyperkinetic Movements, 2015; "About Huntington's Disease", Genome.gov; "History of the HDF", hdf; "History of the HDF", hdf; "History and Genetics of Huntington's Disease Huntington's Disease Society of America", March 2019; "About Huntington's Disease", Genome.gov (we also read that source) en.wikipedia.org
Each numbered sentence above was checked against the source it cites before publication. Sentences citing Wikipedia adapt text from the English Wikipedia article Huntington's disease (contributors), used under CC BY-SA 4.0; this entry is available under the same licence. Other sources were used for facts only; no text or images are copied from them.
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