Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care

Neuromuscular Disorders

Mercuri, E., Finkel, R. S., et al. (2018).

Neuromuscular Disorders, 28(2), 103-115.

This is a guideline providing recommendations on the diagnosis and management of individuals with spinal muscular atrophy (SMA). The recommendations within the guideline were subdivided based on the group's functional level: non-sitter, sitter, or walker.

Spinal Muscular Atrophy Care Group






<p>For patients with SMAwho are unable to walk or sit upright, it is recommended that a full modified barium swallow fluoroscopic study take place shortly after diagnosis. If the initial test is normal, then individuals should be monitored closely for early signs of feeding difficulties.</p> <p>&nbsp;</p> <p>For patients with SMA who are able to sit but are unable to walk, feeding evaluations are recommended to determine necessary feeding modifications, and possible consultations with occupational therapy, to swallow safely and eat effectively.</p> <p>&nbsp;</p> <p>For patients with SMA that are able to walk, results indicated swallowing dysfunction and feeding difficulties to be rare.</p>