In this clinical summary, Drs. Barry Russman and Erika Hedderick of Oregon Health Science University discuss spinal muscular atrophy, which presents with proximal muscle weakness of the upper and lower extremities, the latter being weaker than the former, at least initially. The condition is caused by a deletion of exon 7 on chromosome 5. Other spinal muscular atrophies exist that are not linked to 5Q. Current classification is based on clinical criteria, including age of onset and maximum function attained. The diagnosis is established by a DNA test for the SMN gene. Further testing, including EMG and muscle biopsy are unnecessary. To date, treatment is symptomatic; therapeutic trials have failed to reveal a specific cure for this condition.
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