Myopathy and diabetes mellitus
ORPHA:2596· ICD-10 G71.3
Definition
A rare, genetic, mitochondrial DNA-related mitochondrial myopathy disorder characterized by slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed.
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal