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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,…
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SMA: Life with a Genetic Disorder
Erdős Ákos’s story can be inspiring for many families, especially those facing similar challenges. SMA, or spinal muscular atrophy, is a rare but severe genetic disorder that significantly affects children’s motor development. Recognizing the disease and seeking appropriate treatment is crucial, as early diagnosis and intervention can help improve the quality of life for children. In Ákos’s case, the early delay in motor development alerted his parents to the problem, prompting them to seek a diagnosis. The assistance of physiotherapists and specialists was essential in establishing the correct diagnosis, enabling them to pursue the appropriate treatments. The solidarity of the SMA community and the sharing of experiences provided further support…
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The Importance of the Restart of SMA Screening in Hungary
The spinal muscular atrophy (SMA) is a rare genetic disorder that can severely impact the lives of children. The disease manifests in some infants, thus deserving attention from families and healthcare professionals. Among genetic disorders, SMA requires special attention as early detection and treatment can be crucial for the quality of life of children. Emphasizing the importance of prevention and screening is essential, as the disease can have serious consequences if not detected in time. Screening plays a significant role in ensuring that families are informed about the disease in a timely manner, allowing for early intervention. With this approach, both parents and doctors can prepare for the necessary actions.…
