Choreoacanthocytosis (Q99665): Difference between revisions
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Revision as of 16:20, 16 August 2026
Chorea-acanthocytosis is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. These patients often exhibit feeding dystonia. The red cell chorein is absent and a mutation is CHAC gene is often responsible. CK (Creatine kinase) is often raised and patients may have neuropathy.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_278069977 |
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| English | Choreoacanthocytosis |
Chorea-acanthocytosis is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances. These patients often exhibit feeding dystonia. The red cell chorein is absent and a mutation is CHAC gene is often responsible. CK (Creatine kinase) is often raised and patients may have neuropathy. |
