Distal hereditary motor neuropathy, X-linked (Q89554): Difference between revisions
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Duas famílias foram relatadas com o início de fraqueza distal na primeira década de vida. Pes cavus foi comumente o primeiro sintoma detectado, seguido por fraqueza e atrofia dos membros inferiores distais. Posteriormente, pode haver o envolvimento do membro superior distal. O transtorno foi herdado em um padrão recessivo ligado ao X, com mutação causal identificada no gene de transporte de cobre ATP7A (Xq21.1). | |||
| description / en | description / en | ||
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). | |||
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 |
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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). |
