chorea-acanthocytosis
Sign in to saveAlso known as Levine-Critchley syndrome, choreoacanthocytosis, choreo-acanthocytosis, CHAC, Acanthocytosis With Neurologic Disorder, Neuroacanthocytosis, CHOREOACANTHOCYTOSIS; CHAC
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease—evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
Wikidata facts
Show 6 more facts
- ICD-9-CM
- 333.0
- exact match
- www.orpha.net/ORDO/Orphanet_2388
- NCI Thesaurus ID
- C84926
- external data available at URL
- www.nanbyou.or.jp/entry/4051
- genetic association
- VPS13A
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0
~4 min read
Encyclopedic overview
6 sectionsContents
- Signs and symptoms
- Cause
- Diagnosis
- Treatment
- References
- External links
Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease—evidence suggests that only 500 to 1,000 people worldwide have the condition. It is caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
Other effects of the disease may include involuntary muscle movements, impaired balance and coordination, behavioral changes, memory problems, difficulty swallowing, speech difficulties, seizures, muscle weakness, personality changes, and neuronal degradation similar to Huntington's disease. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.
Excerpted from Wikipedia’s “chorea-acanthocytosis” article, available under the CC BY-SA 4.0 licence.