Distal hereditary motor neuropathy type 2 (Q103456): Difference between revisions

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Latest revision as of 09:13, 17 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_152961055
English	Distal hereditary motor neuropathy type 2	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).