Benign hereditary chorea
Benign Hereditary Chorea
Benign Hereditary Chorea (BHC) (pronunciation: /bɪˈnaɪn hɪˈrɛdɪtəri kɔːˈriːə/) is a rare genetic disorder characterized by involuntary, irregular, quick, jerky movements primarily affecting the limbs, face, and trunk. The term "benign" refers to the non-progressive nature of the condition, and "chorea" is derived from the Greek word "choreia" meaning "dance", referring to the dance-like movements associated with the disorder.
Etymology
The term "Benign Hereditary Chorea" is derived from three words. "Benign" is from the Latin "benignus" meaning "kind, good", referring to the non-progressive nature of the disorder. "Hereditary" is from the Latin "hereditarius" meaning "of inheritance", indicating the genetic nature of the condition. "Chorea" is from the Greek "choreia" meaning "dance", describing the involuntary, dance-like movements characteristic of the disorder.
Symptoms
The primary symptom of BHC is chorea, or involuntary, irregular, quick, jerky movements. These movements primarily affect the limbs, face, and trunk. Other symptoms may include motor delay, speech difficulties, and hypotonia (low muscle tone).
Causes
BHC is caused by mutations in the NKX2-1 gene. This gene provides instructions for making a protein that is involved in the development of the brain, lungs, and thyroid gland. The disorder is inherited in an autosomal dominant manner, meaning only one copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis
Diagnosis of BHC is based on clinical evaluation, detailed patient history, and genetic testing confirming a mutation in the NKX2-1 gene.
Treatment
There is currently no cure for BHC. Treatment is symptomatic and supportive, and may include medications to help manage the chorea, as well as physical, occupational, and speech therapy.
External links
- Medical encyclopedia article on Benign hereditary chorea
- Wikipedia's article - Benign hereditary chorea
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