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To examine the natural history of spinal muscular atrophy (SMA) to gain further insight into the clinical course and pathogenesis.

Survival pattern, age of onset, and ambulatory status were retrospectively analyzed in 70 patients with SMA with deletions of the survival motor neuron 1 genes that presented to a specialized neuromuscular clinic. The Kaplan-Meier method was used to obtain survival curves. Hammersmith Functional Motor Scale-Expanded and abductor pollicis brevis compound muscle action potential amplitudes were assessed in 25 of the surviving cohort and correlated with survival motor neuron 2 copy number.

Survival probabilities at ages 1, 2, 4, 10, 20, and 40 years were 40%, 25%, 6%, and 0%, respectively, for patients with SMA type 1; 100%, 100%, 97%, 93%, 93%, and 52% for patients with SMA type 2 and all patients with SMA type 3 were alive (age …