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.