Catalog

Distal hereditary motor neuropathy, X-linked

No MMS code

Link to WHO Definition

Distal hereditary motor neuropathy, X-linked – http://id.who.int/icd/entity/389749238

Two families have been reported with the onset of distal weakness in the first decade of life. Pes cavus was commonly the first detected symptom followed by distal lower limb weakness and atrophy. Involvement of the distal upper limb followed. The disorder was inherited in an X-linked recessive pattern, with causative mutation identified in the copper transport gene ATP7A (Xq21.1).