GTR Home > Conditions/Phenotypes > Adult proximal spinal muscular atrophy, autosomal dominant

Summary

Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600). [from OMIM]

Available tests

10 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

  • Also known as: RP5-1018E9.1, ALS8, VAMP-B, VAP-B, VAPB
    Summary: VAMP (vesicle-associated membrane protein)-associated protein B and C

Clinical features

Help
  • Hyporeflexia
  • Fasciculations
  • EMG: neuropathic changes
  • Proximal muscle weakness

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