| autosomaal dominante motorische en sensorische neuropathie type 2W (aandoening) |
| autosomaal dominante motorische en sensorische neuropathie type 2W |
| autosomaal dominante ziekte van Charcot-Marie-Tooth type 2W
autosomaal dominante HMSN2W
autosomaal dominante CMT2W
|
| Autosomal dominant Charcot-Marie-Tooth disease type 2W |
| Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS (histidyl-tRNA synthetase 1) mutation
|
| A rare predominantly axonal hereditary motor and sensory neuropathy with characteristics of broad phenotypic spectrum of slowly progressive signs and symptoms mainly affecting the lower limbs. Most patients present with gait difficulties and distal sensory impairment while some may lack sensory symptoms altogether. Pes cavus is frequently reported. Age of onset is also highly variable ranging from childhood to late adulthood. |
