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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spinal muscular atrophy type 2


Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
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Tests & Diagnosis

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How is spinal muscular atrophy type 2 diagnosed?

A diagnosis of spinal muscular atrophy type 2 is suspected based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the SMN1 gene can then be ordered to confirm the diagnosis.[1]
Last updated: 3/24/2015

References
  1. Thomas W Prior, PhD, FACMG and Barry S Russman, MD. Spinal Muscular Atrophy. GeneReviews. November 2013; http://www.ncbi.nlm.nih.gov/books/NBK1352/.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Chronic infantile spinal muscular atrophy
  • Chronic spinal muscular atrophy
  • Dubowitz disease
  • Intermediate spinal muscular atrophy
  • Muscular atrophy, spinal, infantile chronic form
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.