COACH syndrome
COACH Syndrome
COACH syndrome (/koʊtʃ/; etymology: acronym for Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia, Coloboma, and Hepatic fibrosis) is a rare genetic disorder characterized by multiple organ abnormalities.
Definition
COACH syndrome is a complex disorder that primarily affects the brain, eye, and liver. The name "COACH" is an acronym that stands for the primary features of the disorder: Cerebellar vermis hypo/aplasia, Oligophrenia (mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
Symptoms
The symptoms of COACH syndrome can vary widely, but typically include ataxia (lack of muscle control), coloboma (a hole in one of the structures of the eye), hepatic fibrosis (scarring of the liver), and mental retardation.
Causes
COACH syndrome is caused by mutations in the TMEM67 gene. This gene provides instructions for making a protein that is found in cilia, which are microscopic, finger-like projections that stick out from the surface of cells and are involved in signaling pathways that transmit information within cells.
Diagnosis
Diagnosis of COACH syndrome is based on clinical examination, imaging studies, and genetic testing. The presence of the characteristic features of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis can suggest the diagnosis.
Treatment
There is currently no cure for COACH syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include physical therapy for ataxia, regular eye examinations for coloboma, and liver transplantation in cases of severe hepatic fibrosis.
See Also
References
- National Organization for Rare Disorders. (n.d.). COACH Syndrome. Retrieved from https://rarediseases.org/rare-diseases/coach-syndrome/
- Genetics Home Reference. (n.d.). COACH syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/coach-syndrome
External links
- Medical encyclopedia article on COACH syndrome
- Wikipedia's article - COACH syndrome
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