Fast Five Quiz: Spinal Muscular Atrophy Clinical Presentation

Stephen L. Nelson, Jr, MD, PhD


February 01, 2021

In patients with SMA type 2, developmental motor delay is the most common manifestation noted by parents and clinicians. Patients may have difficulty sitting independently and may be unable to stand by the expected age. Respiratory failure, pseudohypertrophy of the gastrocnemius muscle, and musculoskeletal deformities can also occur. A postural tremor affecting the fingers is an unusual feature of the disease; this is believed to be related to fasciculations in the skeletal muscles.

Learn more about the clinical presentation of SMA type 2.


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