Guide To Common Genetic Conditions

Huntington's Disease

Huntington's disease is a neurodegenerative disorder. In most cases, it is inherited. This disorder is caused by a mutation in the huntingtin (HTT) gene. This gene influences a protein that is crucial for proper body development. The type and severity of Huntington's disease symptoms can vary widely. However, in most cases, symptoms are often mild during childhood. Mood or personality changes may be obvious during this time. As Huntington's disease progresses during early to mid-adulthood, symptoms often become more severe and noticeable.

The symptoms may include cognitive impairments, such as difficulties with learning new things, concentration problems, and occasional memory lapses. Chorea, a form of involuntary movements, is a common symptom of Huntington's disease. Once the disease worsens, some patients experience dystonia. These are uncontrollable muscle spasms in the upper body. A more severe type of memory loss can also occur, as well as symptoms of dementia. However, unlike other common neurodegenerative diseases, speech and language skills are often unaffected in Huntington's disease, even when other symptoms are severe.