Catalog

Distal hereditary motor neuropathy type 7

No MMS code

Link to WHO Definition

Distal hereditary motor neuropathy type 7 – http://id.who.int/icd/entity/80361835

Patients with DHMN7 present with distal limb weakness and wasting in the second decade. Hands may be first affected. Other features include pes cavus and hyporeflexia. Vocal cord paresis is a characteristic feature. Weakness is slowly progressive. DHMN types 7A and 7B have been identified with mutations in SLC5A7 (2q12.3) and DCTN1 (2p13.1) respectively.