Distal hereditary motor neuropathy type 5
Også kjent som: Distal HMN 5
Engelsk navn: Distal hereditary motor neuropathy type 5
Engelske synonym: Distal HMN V,Distal hereditary motor neuropathy type V,Distal spinal muscular atrophy type 5,dHMN5
Definisjon
A rare autosomal dominant distal hereditary motor neuropathy disease characterized by muscle weakness and wasting predominantly affecting the hands, in particular the thenar and first dorsal interosseus muscles, and/or marked foot deformity and gait disturbance. Sensation is normal, although reduced response to vibration has been described. The disease is slowly progressive with an age of onset within the first few decades of life.
Fra Orphanet
ORPHA: 139536
Klassifiseringsnivå: Disorder
ICD-10: G12.2
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
