
Understanding Spinal Muscular Atrophy: Causes, Symptoms, and Management
Spinal Muscular Atrophy (SMA) is a genetic disorder characterized by the loss of motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The condition is caused by mutations in the SMN1 gene, which is responsible for producing the survival motor neuron (SMN) protein. Without sufficient SMN protein, motor neurons degenerate, resulting in impaired muscle function. SMA is inherited in an autosomal recessive manner, meaning both parents must carry a copy of the mutated gene for a child to be affected. The severity of SMA varies, with different types classified based on the age of onset and clinical features. Types of Spinal Muscular Atrophy SMA is categorized into several types, each with distinct characteristics: Type 0: The most severe form, present at birth, often leading to respiratory failure in infancy. Type 1 (Werdnig-Hoffmann disease): Onset before 6 months of age, with severe muscle weakness and limited motor development. Type 2: Onset between 6 and 18 months, with moderate muscle weakness and the ability to sit but not walk independently. Type 3 (Kugelberg-Welander disease): Onset after 18 months, with milder symptoms and the ability to walk, though mobility may decline over time. Type 4: Adult-onset SMA, with mild symptoms and slow progression.