SMA 5q: Classification (without treatment)
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Overview
From WUSTL NeuromuscularInheritance: Recessive SMN1 mutations: Bi-Allelic SMAType SMN2Copies SMA5q % OnsetAge MotorMilestoneAchieved LifeExpectancy 0 1 < 1% Birth Never Sit < 6 mo 1 2-3 55% 0 to 6 mo Never Sit 8 to 24 mo 2 2-4 30% 6 to 18 mo Sit 2 to 4 decades 3 3-5 10% 3A: 1.5 to 3 yrs 3B: 3 to 20 yrs Walk Normal 4 3-5 5% Adult Walk Normal History SMA described independently by Guido Werdnig & Hoffmann in 1891 Werdnig Described condition as "Neurogenic dystrophy" Hoffmann Established spinal nature of SMA Coined term: "Spinale muskelatrophie" Epidemiology Incidence of SMA disease: 1 in 6,000 to 20,000 births 25 2nd m
OMIM Entries
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Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.