Remitting spinal atrophy, also known as spinal muscular atrophy (SMA), is a genetic disorder characterized by the progressive degeneration and death of motor neurons in the spinal cord, leading to muscle weakness and atrophy. This condition affects the voluntary muscles involved in movement, including those necessary for breathing, swallowing, and crawling.
The term "remitting" refers to the fact that SMA symptoms can vary in severity, and may even improve or stabilize temporarily. However, the general trend is a persistent, gradual deterioration in muscle strength and function over time. The condition can manifest in different forms, depending on the age of onset and the severity of symptoms.
SMA is caused by a mutation in the SMN1 gene, resulting in the deficiency of the survival motor neuron (SMN) protein. This protein is crucial for the survival and function of motor neurons. The lack of SMN protein leads to the progressive loss of motor neurons, resulting in muscle weakness and atrophy.
Symptoms of remitting spinal atrophy include muscle weakness, poor muscle tone, difficulty with movement and coordination, fasciculations (muscle twitching), and respiratory problems. The severity of symptoms can range from mild to severe, with severe cases often leading to significant disability and a reduced life expectancy.
While there is currently no cure for remitting spinal atrophy, there have been significant advancements in treatment options that can help manage the symptoms and slow down the progression of the condition. These include medications, physical therapy, respiratory support, and other supportive care measures.
