Distal hereditary motor neuropathy type 5 (Q103454): Difference between revisions

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Latest revision as of 09:13, 17 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_731763322
English	Distal hereditary motor neuropathy type 5	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.