[5q spinal muscular atrophy in adults]

Autosomal recessive spinal muscular atrophy (SMA), linked to chromosome 5q, is an orphan neuromuscular disease caused by mutations in the SMN1 gene (Survival Motor Neuron gene) on the long arm of chromosome 5. It is more common in males, especially at the onset of the disease in the interval from 37 months to 18 years. Since SMA is usually associated with rapid onset early in life, it is sometimes challenging to diagnose adolescents and adults as SMA symptoms are non-specific. Type IV SMA is uncommon. The onset of the disease can occur at the age of 15-50 years. The disease develops rather slowly, essentially with no effect on life duration. With this type of SMA, overall muscle strength gradually decreases, eventually causing the loss of the ability to move independently. We present our case of 5q SMA with the onset in adulthood.