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Spinal Muscular Atrophy (SMA) is an autosomal recessive hereditary neuromuscular disorder with an estimated incidence of approximately 8 to 10 per 100,000 births. Clinical presentation is such that SMA could be initially detected by a wide spectrum of clinicians, including physical therapists, speech pathologists, orthopedic surgeons, and pediatricians, among others. While SMA patients may experience (sometimes profound) disability, initial index of suspicion may be low on the part of the clinician, particularly among those who rarely see these patients. Effective therapies for the management of SMA exist, but it is critical to diagnose and treat SMA as early as possible for maximal benefit of therapy. Unfortunately, diagnosis is often inaccurate and delayed. This presentation will emphasize the impact of early diagnosis and treatment of SMA by early recognition of signs and symptoms as they present in different clinical settings.
