Autosomal dominant Charcot-Marie-Tooth disease type 2A1
ORPHA:99946· ICD-10 G60.0
Definition
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, presenting with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood