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About Choreoacanthocytosis

What is Choreoacanthocytosis?

Choreoacanthocytosis is a rare genetic disorder that affects the nervous system. It is characterized by involuntary movements (chorea) and abnormal red blood cells (acanthocytes). Symptoms may include muscle spasms, difficulty speaking, difficulty swallowing, and seizures. There is no cure for choreoacanthocytosis, but medications and physical therapy can help manage symptoms.

What are the symptoms of Choreoacanthocytosis?

The symptoms of Choreoacanthocytosis vary from person to person, but may include:

-Muscle weakness

-Involuntary movements (chorea)
-Abnormal eye movements
-Speech and language difficulties
-Cognitive impairment
-Behavioral problems
-Gastrointestinal problems
-Weight loss
-Abnormal red blood cells (acanthocytes)
-Abnormal liver function tests

What are the causes of Choreoacanthocytosis?

Choreoacanthocytosis is a rare genetic disorder caused by mutations in the VPS13A gene. It is inherited in an autosomal recessive pattern, meaning that both copies of the gene must be mutated for a person to be affected by the disorder. Other causes of Choreoacanthocytosis include environmental factors, such as exposure to certain toxins, and certain medications.

What are the treatments for Choreoacanthocytosis?

There is no known cure for Choreoacanthocytosis, but treatments are available to help manage the symptoms. These treatments may include medications to reduce muscle spasms, physical therapy to improve muscle strength and coordination, and occupational therapy to help with daily activities. In some cases, surgery may be recommended to help improve movement. Additionally, lifestyle changes such as a healthy diet and regular exercise may help to improve overall health and reduce symptoms.

What are the risk factors for Choreoacanthocytosis?

1. Inherited genetic mutation: Choreoacanthocytosis is caused by a mutation in the VPS13A gene.

2. Age: Choreoacanthocytosis is most commonly diagnosed in adults between the ages of 20 and 40.

3. Gender: Choreoacanthocytosis is more common in males than females.

4. Ethnicity: Choreoacanthocytosis is more common in people of Ashkenazi Jewish descent.

Is there a cure/medications for Choreoacanthocytosis?

At this time, there is no cure for Choreoacanthocytosis. However, medications such as anticonvulsants, antipsychotics, and antidepressants may be used to help manage the symptoms. Additionally, physical and occupational therapy may be beneficial in helping to improve coordination and muscle strength.