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GTR Home > Conditions/Phenotypes > Choreoacanthocytosis

Choreoacanthocytosis

Synonyms
Acanthocytosis with neurologic disorder; Chorea-acanthocytosis; Levine-Critchley syndrome; Neuroacanthocytosis
Modes of inheritance
Autosomal recessive inheritance (HPO, OMIM, Orphanet)

Summary

Excerpted from the GeneReview: Chorea-Acanthocytosis
Chorea-acanthocytosis (ChAc) is characterized by a progressive movement disorder, cognitive and behavior changes, a myopathy that can be subclinical, and chronic hyperCKemia in serum. Although the disorder is named for acanthocytosis of the red blood cells, this feature is variable. The movement disorder is mostly limb chorea, but some individuals present with parkinsonism. Dystonia is common and affects the oral region and especially the tongue, causing dysarthria and serious dysphagia with resultant weight loss. Habitual tongue and lip biting are characteristic, as well as tongue protrusion dystonia. Progressive cognitive and behavioral changes resemble those in a frontal lobe syndrome. Seizures are observed in almost half of affected individuals and can be the initial manifestation. Myopathy results in progressive distal muscle wasting and weakness. Mean age of onset in ChAc is about 30 years, although ChAc can develop as early as the first decade or as late as the seventh decade. It runs a chronic progressive course and may lead to major disability within a few years. Life expectancy is reduced, with age of death ranging from 28 to 61 years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Antonio Velayos Baeza
Carol Dobson-Stone
Luca Rampoldi
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Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (21 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CHAC, CHOREIN, VPS13A
    Summary: vacuolar protein sorting 13 homolog A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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