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
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.
Informasjon
Norsk nevromuskulært kompetansesamarbeid har kunnskap om diagnosen.
ORPHA: 139518
Klassifiseringsnivå: DisorderICD-10: G12.2