Choreoacanthocytosis (Q99665): Difference between revisions
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A coreia-acantocitose é uma forma de neuroacantocitose que é caracterizada clinicamente por um fenótipo semelhante à doença de Huntington com sintomas neurológicos progressivos, incluindo transtornos do movimento, manifestações psiquiátricas e distúrbios cognitivos. Esses pacientes freqüentemente apresentam distonia alimentar. A coreína dos glóbulos vermelhos está ausente e uma mutação no gene CHAC é freqüentemente a responsável. CK (creatina quinase) geralmente está aumentada e os pacientes podem apresentar neuropatia. | |||
| description / en | description / en | ||
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. | |||
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. |
