Frequency of 5q spinal muscular atrophy in adults with unspecified neuromuscular diseases

OBJECTIVE: To assess the prevalence of 5q spinal muscular atrophy (SMA) among adult patients with undifferentiated neuromuscular disorders. MATERIAL AND METHODS: ) was performed. RESULTS: gene. Her clinical presentation included proximal lower limb weakness and neurogenic EMG changes, but she lacked areflexia and had normal CK levels. For 29 years, she had been misdiagnosed with «unspecified myopathy»(G72.9). CONCLUSION: The findings highlight the need to include 5q SMA in the differential diagnosis of adult patients with undifferentiated neuromuscular disorders. Optimizing diagnostic algorithms and enhancing epidemiological monitoring in this age group are essential to reduce diagnostic delays.