childhood spinal muscular atrophy
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Genetics
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
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
More general terms
More specific terms
- 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)
Additional terms
- childhood spinal muscular atrophy genotyping
- neuronal apoptosis inhibitory (NAIP) gene
- survival motor neuron (SMN) gene
References
- ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/7813012
- ↑ 2.0 2.1 Ebert AD et al. Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature 2009 Jan 15; 457:277 PMID: https://www.ncbi.nlm.nih.gov/pubmed/19098894
Sendtner M. Stem cells: Tailor-made diseased neurons. Nature 2009 Jan 15; 457:269. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19148087 - ↑ 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: https://www.ncbi.nlm.nih.gov/pubmed/7813013
- ↑ OMIM https://mirror.omim.org/entry/253300
- ↑ OMIM https://mirror.omim.org/entry/253550
- ↑ OMIM https://mirror.omim.org/entry/253400
- ↑ OMIM https://mirror.omim.org/entry/271150
Patient information
childhood spinal muscular atrophy patient information