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Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26] Since the penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
Form Treatment; Huntington's-related: A common treatment is dopaminergic antagonists, although treatment is largely supportive. Tetrabenazine, deutetrabenazine and valbenazine are FDA-approved drugs for the treatment of Huntington's disease-related chorea. Sydenham's chorea: Haloperidol, carbamazepine and valproic acid.
The genetic mutation linked to Huntington's has long been known, but scientists haven't understood how people could have the mutation from birth, but not develop any problems until later in life.
Huntington disease is normally progressive and results in movement, cognitive and psychiatric disorders. These disorders can lead to a severe impact on an individual's daily activities, making it hard for proper communication and independent actions to take place. [9] Replication slippage can also lead to other neurodegenerative diseases in humans.
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Hyperkinesia, more specifically chorea, is the hallmark symptom of Huntington's disease, formerly referred to as Huntington's chorea. Appropriately, chorea is derived from the Greek word, khoros, meaning "dance." The extent of the hyperkinesia exhibited in the disease can vary from solely the little finger to the entire body, resembling ...
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