Distal hereditary motor neuropathy, X-linked (Q89554): Difference between revisions

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Latest revision as of 16:20, 15 August 2026

Two families have been reported with the onset of distal weakness in the first decade of life. Pes cavus was commonly the first detected symptom followed by distal lower limb weakness and atrophy. Involvement of the distal upper limb followed. The disorder was inherited in an X-linked recessive pattern, with causative mutation identified in the copper transport gene ATP7A (Xq21.1).

Language	Label	Description	Also known as
default for all languages	ID_389749238
English	Distal hereditary motor neuropathy, X-linked	Two families have been reported with the onset of distal weakness in the first decade of life. Pes cavus was commonly the first detected symptom followed by distal lower limb weakness and atrophy. Involvement of the distal upper limb followed. The disorder was inherited in an X-linked recessive pattern, with causative mutation identified in the copper transport gene ATP7A (Xq21.1).