Dilated cardiomyopathy with ataxia
ORPHA:66634· ICD-10 E71.1
Definition
Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy