Families of SMA

Families of Spinal Muscular Atrophy (SMA) are a group of inherited genetic disorders characterized by progressive loss of motor neurons in the spinal cord, leading to muscle weakness and atrophy. It's caused by a mutation in the SMN1 gene, which reduces a protein vital for muscle function. SMA varies in severity and onset, from infants to adults, and is typically inherited in an autosomal recessive pattern, meaning both parents carry a copy of the mutated gene. Advances in treatments have improved outcomes, but managing SMA often involves multidisciplinary care to support mobility, breathing, and other functions.