Catalog

Distal hereditary motor neuropathy type 1

No MMS code

Link to WHO Definition

Distal hereditary motor neuropathy type 1 – http://id.who.int/icd/entity/1049436513

Patients with DHMN1 develop distal lower limb weakness with or without pes cavus, typically in the first decade of life. Some patients may show increased lower limb muscle tone or extensor plantar responses. Weakness is slowly progressive but life expectancy is normal. Linkage analyses have identified a disease locus at 7q34-q36.