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GTR Home > Conditions/Phenotypes > X-linked distal spinal muscular atrophy type 3

X-linked distal spinal muscular atrophy type 3

Synonyms
ATP7A-Related Distal Motor Neuropathy; NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED; SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

A rare distal hereditary motor neuropathy with characteristics of 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. [from SNOMEDCT_US]

Available tests

70 tests are in the database for this condition.

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Clinical tests (70 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DSMAX, HMNX, MK, MNK, SMAX3, ATP7A
    Summary: ATPase copper transporting alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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