Huntington's disease

Huntington's disease (HD), also known as Huntington's chorea, is a rare and hereditary neurodegenerative disorder that affects the brain's nerve cells, leading to a progressive decline in motor control, cognitive abilities, and emotional stability. The disease is named after George Huntington, the physician who first described its symptoms in the late 19th century.

Here are some key features of Huntington's disease:

Inheritance: HD is caused by a mutation in the HTT gene, located on chromosome 4. The mutation involves an abnormal repetition of a specific DNA sequence called CAG, resulting in the production of a faulty protein called huntingtin. As the number of CAG repeats increases, the severity and age of onset of the disease tend to worsen. The disease follows an autosomal dominant inheritance pattern, which means that if a person inherits a single copy of the mutated gene from either parent, they will eventually develop the disease.

Symptoms: HD typically manifests between the ages of 30 and 50, although there are cases of early-onset and late-onset forms.

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