Catalog

Distal hereditary motor neuropathy type 2

No MMS code

Link to WHO Definition

Distal hereditary motor neuropathy type 2 – http://id.who.int/icd/entity/152961055

Patients with DHMN2 develop distal lower limb weakness most commonly in early adulthood. Weakness progresses in the lower limbs and subsequently involves the distal upper limbs. Deep tendon reflexes are commonly depressed. There are 4 subtypes; 2A, 2B, 2C,and 2D with similar clinical phenotypes but different genetic mutations (in HSPB8, HSPB1, HSPB3, and FBXO38 genes respectively).

Parents

Distal hereditary motor neuropathy, autosomal dominant