Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which is responsible for producing a protein essential for motor neuron function. Without this protein, the motor neurons progressively degenerate, resulting in muscle weakness and loss of movement control.
SMA is classified into different types based on the age of onset and severity of symptoms. The most severe form, known as SMA type 1 or Werdnig-Hoffmann disease, typically manifests in infancy and can significantly impact motor function, breathing, and swallowing. Other types, such as SMA type 2 and 3, have later onset and milder symptoms.
Early diagnosis and intervention are crucial in managing SMA. While there is currently no cure, there are treatment options available that aim to slow down the progression of the disease and improve quality of life. This may include physical therapy, assistive devices, respiratory support, and medications.
It is important to consult with healthcare professionals for accurate diagnosis, personalized treatment plans, and ongoing support.