Spinal Muscular Atrophy, Type III
| Disorder | |
|---|---|
| OMIM #: | #253400 (Click to access OMIM database) |
| Disorder: | Spinal Muscular Atrophy, Type III |
| Also known as: | SMA III, MUSCULAR ATROPHY, JUVENILE, KUGELBERG-WELANDER SYNDROME KWS, SPINAL MUSCULAR ATROPHY, MILD CHILDHOOD AND ADOLESCENT FORM |
| Clinical | |
| Phenotype: | muscle weakness, muscle atrophy, tremors, begins between ages 2-17, atrophy and weakness begins in proximal muscles and then extends to distal muscles |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | SMN1 |
| Base Change: | |
| Amino Acid Change: | whole gene deletion |
| Last updated: | 2022-11-13 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C. (2011) A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites. Eur J Hum Genet Oct;19(10):1045-51. PubMed ID: 21610747 |
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