Distal motorisk nevronopati type 1
Engelsk navn: Distal hereditary motor neuropathy type 1
Engelske synonym: Autosomal dominant distal juvenile spinal muscular atrophy type 1,dHMN1
Definisjon
Distal hereditary motor neuropathy type 1 is a rare neuromuscular disease characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment. Additional clinical features may include pes cavus, hammertoe and increased muscle tone.
Fra Orphanet
ORPHA: 139518
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)
