neurologic disorders
Spinal Muscular Atrophies (SMAs)
Key Points
If infants and children have unexplained muscle wasting and flaccid weakness, evaluate them for spinal muscular atrophies. EMG shows muscle denervation. Use genetic testing to confirm the presence and type of spinal muscular atrophy. Refer patients to physical and occupational therapists, who may help patients learn to function more independently. Nusinersen, onasemnogene, orrisdiplammay marginally improve motor function and delay disability and death. 