Catalog

Distal hereditary motor neuropathy type 5

No MMS code

Link to WHO Definition

Distal hereditary motor neuropathy type 5 – http://id.who.int/icd/entity/731763322

Patients with DHMN5 develop weakness and wasting most prominently of the distal upper limb. Average age of onset is in the teenage years. Weakness subsequently spreads to the distal lower limb and remains very slowly progressive. Patients may remain ambulant into later life. Mild pyramidal features may be observed. Two subtypes have been identified; 5A caused by mutations in GARS or BSCL2, and 5B caused by mutations in REEP1.