NARP syndrome
ORPHA:644· ICD-10 E88.8
Definition
A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
- Prevalence
- 1-9 / 100 000
- Inheritance
- Mitochondrial inheritance
- Age of onset
- Childhood