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childhood spinal muscular atrophy

Genetics: - defects/deletion in SMN1 (types 1,2,3,4) - deletion in NAIP Clinical manifestations: - SMA1 is a severe form, with onset before 6 months of age; patients never achieve the ability to sit - SMA2 onset is between 6-18 months patients do not reach the motor milestone of standing, & survive into adulthood - SMA3 onset is after 18 months; patients develop ability to stand & walk & survive into adulthood - SMA4 onset is in adulthood & disease progression is slow; patients can stand & walk Laboratory: - childhood spinal muscular atrophy genotyping Management: - investigational: [2] - fibroblasts from a child with SMA have been transformed into induced pluripotent stem cells that were subsequently induced chemically to become motor neurons; these motor neurons had the morphologic & biochemical defects seen in spinal muscular atrophy - two drugs that induce production of the missing SMN1 protein were active in the motor neurons produced from the child's cells

Related

childhood spinal muscular atrophy genotyping neuronal apoptosis inhibitory (NAIP) gene survival motor neuron (SMN) gene

Specific

spinal muscular atrophy type 3; chronic childhood spinal muscular atrophy; Kugelberg-Welander disease (SMA3) spinal muscular atrophy type-1; Werdnig-Hoffmann disease spinal muscular atrophy type-2 (intermediate type, SMA2)

General

spinal muscular atrophy (SMA)

Database Correlations

OMIM correlations

References

  1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. PMID: 7813012
  2. Ebert AD et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009 Jan 15; 457:277 PMID: 19098894 - Sendtner M. Stem cells: Tailor-made diseased neurons. Nature 2009 Jan 15; 457:269. PMID: 19148087
  3. Roy et al. The gene for neuronal apoptosis inhibitory protein is partially deleted in individuals with spinal muscular atrophy. Cell 80:167-78 1995 PMID: 7813013
  4. OMIM :accession 253300
  5. OMIM :accession 253550
  6. OMIM :accession 253400
  7. OMIM :accession 271150