Children with Spinal Muscular Atrophy, Ukraine – Kharkiv Charitable Foundation

The Children with Spinal Muscular Atrophy (CSMA) is a voluntary, non-profit foundation in Ukraine whose mission is to provide support and information for anyone affected by or involved with Spinal Muscular Atrophy (SMA). SMA is a motor neuron disease characterized by the progressive degeneration of nerve cells in the spinal cord and brainstem, leading to muscle weakness, muscle atrophy, and respiratory complications. Among genetic diseases, it is a leading cause of death among children under age two. Spinal muscular atrophy is inherited as an autosomal recessive trait. Molecular genetic testing has revealed that all types of autosomal recessive SMA are caused by mutations in the SMN (survival motor neuron) gene on chromosome 5. Deletion of the NAIP (neuronal apoptosis inhibitory protein) gene that is close to the SMN gene is also associated with SMA. SMA is divided into subtypes based on age of onset of symptoms and maximum function achieved.