Amish, Mennonite, and Hutterite
Genetic Disorder Database

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: paralysis, degeneration of the anterior horn cells of the spinal cord, progressive symmetrical limb and trunk paralysis, atrophy, severe hypotonicity 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:  
Mutations
1   Amish, Old Order Mennonite  
Gene: SMN1
Base Change: exon 7 deletion
Amino Acid Change:
Last updated: 2018-12-14 

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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