Chorea-acanthocytosis
Chorea-acanthocytosis (pronounced as koh-ree-uh-uh-kan-thuh-sy-toh-sis) is a rare, neurodegenerative disorder characterized by the presence of acanthocytes in the blood and progressive neurological symptoms such as chorea, dystonia, and neuropathy.
Etymology
The term "Chorea-acanthocytosis" is derived from two Greek words: "Chorea" meaning dance, referring to the involuntary movements seen in this condition, and "acanthocyte" meaning thorn cell, referring to the spiky red blood cells seen in this disorder.
Symptoms
The symptoms of chorea-acanthocytosis typically begin in early adulthood and may include chorea, dystonia, neuropathy, seizures, muscle weakness, and cognitive impairment. The severity and progression of symptoms can vary widely among affected individuals.
Causes
Chorea-acanthocytosis is caused by mutations in the VPS13A gene. This gene provides instructions for making a protein that is involved in the transport of proteins and other materials within cells.
Diagnosis
Diagnosis of chorea-acanthocytosis is based on clinical examination, blood tests showing the presence of acanthocytes, and genetic testing confirming a mutation in the VPS13A gene.
Treatment
There is currently no cure for chorea-acanthocytosis. Treatment is symptomatic and supportive, and may include medications to manage movement symptoms, physical therapy to improve mobility and strength, and speech therapy to address speech and swallowing difficulties.
See also
External links
- Medical encyclopedia article on Chorea-acanthocytosis
- Wikipedia's article - Chorea-acanthocytosis
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