Huntington’s disease is a progressive neurodegenerative, adult onset, autosomal inherited disorder associated with cell loss in a specefic subset of neurons.Dr George Huntington first described this disease in 1872.It is an inherited disorder of the central nervous system caused by a dominant gene which means that everyone who inherits the gene from one of his/her parents will develop the disease and the chances are found to be 50%. This disease is devastating in nature and is prevalent at the middle age of humans.It affects muscle coordination and leads to cognitive decline and dementia.The earliest symptom of this disease is clumsiness but as the disease progresses the movements become uncontrollable.These movements include odd bodily postures.Other symptoms are forgetfulness, irritability,shrunken brain and enlarged ventricles. The main cause of this disease is reduced activity of neurotransmitter Acetylcholine and GABA which in turn affects Dopamine causes its hyperactivity.Thus Huntington Chorea is somewhat similar to Parkinsons disease where there is Dopamine under activity. Drug therapies can ease the symptoms of this disease but there may be serious side effects with these drugs. Particularly, there is no cure of this disease.However, new techniques like neural grafting may offer hope for the sufferers in the near future. A recent study revealed the fact that a gene named Huntingtin codes for a different form of the protein whose presence results in damaging specific areas of the brain. The exact way this happens is not fully understood.Genetic testing can be performed at all stages of the development, even before the onset of symptoms.This raises several ethical debates regarding the age at which an individual is considered mature enough to choose testing. Symptoms of this disease commonly become noticeable between 35-44 years, it can even start from infancy.In the early stages there is changes in cognition an physical ability.Especially executive functions like planning, abstract thinking are impaired. Huntington’s disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat of an affected parent.Since penetrance of the mutation is very high, those who have the mutated copy of the gene, will have the disease. There is no cure for Huntington’s disease but there are treatments available to reduce the severity of some of its symptoms.Tetrabenazine was successfully developed to reduce the severity of chorea, other drugs that help to reduce chorea are neuroleptics and benzodiazepines. Although there have been very few studies of exercises and therapies that help to rehabilitate cognitiv symptoms but there lies an evidence for usefulnesses of speech therapy, occupational therapy and physical therapy.However more rigorous studies are needed by health authorities to endorse them.
Huntington Chorea