Hypotonic infants and children present a challenge in terms of differential diagnosis. It is important to determine if weakness is present, then work to determine a possible genetic diagnosis for neuromuscular disease.

Our child neurology residents are not exposed often enough to pediatric patients with neuromuscular disorders. The opportunity to develop the skills to make accurate diagnoses is limited as many of these are rare disorders. Despite the rarity of the disorders, a methodical approach to history and physical exam can lead to diagnosis. Many of the patients with neuromuscular disorders will benefit from treatments specific to their diagnosis.