Autosomal dominant Charcot-Marie-Tooth disease type 2V
What is Autosomal dominant Charcot-Marie-Tooth disease type 2V?
A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.
Other condition names
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
- CMT2V
- Hereditary adult-onset painful axonal polyneuropathy
Inheritance type
Autosomal dominant
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Adolescent
- Adult
- Elderly
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.