The signs and symptoms of chorea-acanthocytosis usually begin in early to mid-adulthood. The movement problems of this condition worsen with age. Loss of cells (atrophy) in certain brain regions is the major cause of the neurological problems seen in people with chorea-acanthocytosis.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of erythrocytes||90%|
|Neurological speech impairment||90%|
|Abnormality of coagulation||50%|
|Abnormality of the oral cavity||50%|
|Abnormality of urine homeostasis||50%|
|Attention deficit hyperactivity disorder||50%|
|Cerebral cortical atrophy||50%|
|Skeletal muscle atrophy||50%|
|Abnormality of the thyroid gland||7.5%|
|Acute hepatic failure||7.5%|
|Elevated hepatic transaminases||7.5%|
|Nausea and vomiting||7.5%|
|Recurrent respiratory infections||7.5%|
|Autosomal recessive inheritance||-|
|Elevated serum creatine phosphokinase||-|
|Limb muscle weakness||-|
|Self-mutilation of tongue and lips due to involuntary movements||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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