X-linked distal spinal muscular atrophy type 3

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X-linked distal spinal muscular atrophy type 3

Synonyms: ATP7A-related distal motor neuropathy | DSMAX | SMAX3 | X-linked dHMN3 | X-linked dSMA3 | X-linked distal hereditary motor neuropathy type 3

X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss sometimes mild proximal weakness in the legs and feet and hand deformities in males.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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X-linked distal spinal muscular atrophy type 3?

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