Infantile Spinal Muscular Atrophy, also known as Type 1 Spinal Muscular Atrophy (SMA), is a genetic disorder characterized by the progressive weakening and wasting of muscles. It is typically diagnosed during infancy or early childhood and is the most severe form of SMA.
This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which is responsible for producing a protein essential for the survival and functioning of motor neurons, specialized nerve cells that control muscle movement. The lack or insufficiency of this protein leads to the degeneration of motor neurons, resulting in muscle weakness and atrophy.
Individuals with Infantile Spinal Muscular Atrophy may experience difficulties in achieving motor milestones, such as sitting, crawling, or walking, due to the muscle weakness. They may also exhibit decreased muscle tone (hypotonia), difficulty breathing and swallowing, and may require respiratory support or feeding assistance. In severe cases, SMA can affect the muscles involved in the control of respiratory functions, leading to respiratory failure.
Treatment for Infantile Spinal Muscular Atrophy primarily focuses on managing the symptoms and improving the individual's quality of life. This may involve various strategies such as physical therapy, assistive devices to enhance mobility, respiratory support, and nutritional support. In recent years, there have been significant advancements in the treatment options, including gene therapy and medication, which show promise in improving the prognosis for individuals with this condition.
