Spinal Muscular Atrophy, Type I
| Disorder | |
|---|---|
| OMIM #: | #253300 (Click to access OMIM database) |
| Disorder: | Spinal Muscular Atrophy, Type I |
| Also known as: | SMA1, SMA, INFANTILE ACUTE FORM, MUSCULAR ATROPHY, INFANTILE, WERDNIG-HOFFMANN DISEASE |
| Clinical | |
| Phenotype: | muscle weakness, paralysis, degeneration of the anterior horn cells of the spinal cord, progressive symmetrical limb and trunk paralysis, muscle atrophy, severe hypotonia at the age of 3 months, death from respiratory failure within first 2 years |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish, Old Order Mennonite | |
| Gene: | SMN1 |
| Base Change: | exon 7 deletion |
| Amino Acid Change: | |
| Last updated: | 2022-11-13 |
| References |
|---|
| Carson VJ, Puffenberger EG, Bowser LE, Brigatti KW, Young M, Korulczyk D, Rodrigues AS, Loeven KK, Strauss KA. (2018) Spinal muscular atrophy within Amish and Mennonite populations: Ancestral haplotypes and natural history. PLoS One Sep 6;13(9):e0202104. PubMed ID: 30188899 |
| Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benlchou B, Cruaud C, Millasseau P, Zeviani M, Le Paslier D, Frezal J, Cohen D, Weissenbach J, Munnich A, and Melki J. (1995) Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene. Cell 80: 155-165. PubMed ID: 7813012 |
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