Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, atrophy, 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:  
Mutations
1   Hutterite  
Gene: SMN1
Base Change:
Amino Acid Change: whole gene deletion
Last updated: 2018-12-14 

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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