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

Adult-onset proximal spinal muscular atrophy, autosomal dominant

Synonyms
Adult proximal spinal muscular atrophy, autosomal dominant; FINKEL LATE-ADULT TYPE SMA; Spinal muscular atrophy, late-onset, finkel type
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

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

30 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS8, VAMP-B, VAP-B, VAPB
    Summary: VAMP associated protein B and C

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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