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spinal muscular atrophy type 3; chronic childhood spinal muscular atrophy; Kugelberg-Welander disease (SMA3)

Type III SMA, late infantile SMA, juvenile SMA. Genetics: 1) autosomal recessive 2) gene defect chromosome 5q11.2-13.3 Clinical manifestations: - SMA3 onset is after 18 months; patients develop ability to stand & walk & survive into adulthood Notes: see NINDS Spinal Muscular Atrophy Information Page

General

childhood spinal muscular atrophy

Database Correlations

OMIM correlations MORBIDMAP 600354

References

  1. Asbury, McKhann, McDonald. Diseases of the Nervous System. Clinical Neurobiology. Saunders 1992
  2. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Spinal Muscular Atrophy Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Spinal-Muscular-Atrophy-Information-Page