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spinal muscular atrophy type-2 (intermediate type, SMA2)

Clinical manifestations - SMA2 onset is between 6-18 months patients do not reach the motor milestone of standing, & survive into adulthood

General

childhood spinal muscular atrophy

References

  1. 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
  2. GARD Genetic and Rare Diseases Information Center Spinal muscular atrophy 2 https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2