Distal hereditary motor neuropathy, X-linked (Q89554): Difference between revisions
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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 |
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| default for all languages | ID_389749238 |
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| 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). |
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CID11:ID_389749238
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