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Gene Therapy – Can It Save Children Living with SMA?
The spinal muscular atrophy (SMA) is a rare genetic disease that can severely affect the quality of life of children. The disease primarily involves damage to the motor neurons in the spinal cord, leading to muscle weakness and even muscle atrophy. This process hinders the normal development of movement and, in severe cases, can cause respiratory muscle failure, necessitating mechanical respiratory support. Early diagnosis of SMA is crucial, as timely initiation of treatment can result in significant improvements in the quality of life for young patients. Until now, the disease has been virtually untreatable, with the worst cases not allowing children to survive past their first year. However, the latest…
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Spinal Muscular Atrophy (SMA)
The spinal muscular atrophy (SMA) is a neuromuscular disease with an autosomal recessive inheritance pattern, characterized by the gradual degeneration of the motor neurons in the spinal cord. This disease causes varying degrees of muscle weakness and atrophy, significantly impacting the quality of life of patients. In Hungary, 10-15 new children with SMA are born each year, indicating the relatively rare occurrence of the disease, yet it can have severe effects on the lives of families. The underlying cause of SMA is a defect in the SMN1 (Survival Motor Neuron 1) gene, which plays a key role in the survival of motor neurons. When this gene does not function properly,…
