Spinal Muscular Atrophy

The definitive diagnosis of spinal muscular atrophy is genetic testing based on clinical evaluation. First, a clinical suspicion is made based on the review of medical history and developmental milestones, and neurologic examinations, followed by genetic testing of SMN1 gene through multiplex ligation-dependent probe amplification (MLPA) to confirm the diagnosis. Additional electrophysiologic tests, electromyography and nerve conduction studies, may help the diagnosis of spinal muscular atrophy.

There is still no complete cure for spinal muscular atrophy. However, with the advance in treatment, gene therapy and medications, such as Zolgensma, Spinraza, Evrysdi, have improved the severity of symptoms and slowed the progression of the disease. Because muscle weakness can lead to various functional impairments, a multidisciplinary approach is essential. Supportive care includes physical therapy, respiratory support, nutritional support, and orthopedic care.