Spinal Muscular Atrophy
Spinal Muscular Atrophy (pronunciation: /ˈspaɪnəl ˈmʌskjʊlər ætˈrəʊfi/) is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, known as motor neurons, in the spinal cord and the part of the brain connected to the spinal cord (the brainstem).
Etymology
The term "Spinal Muscular Atrophy" is derived from the Latin spina (spine), the Greek mys (muscle), and the Greek atrophia (wasting away).
Types
There are four types of Spinal Muscular Atrophy, classified based on the age that symptoms begin and the highest physical milestone achieved. They are:
- Type I Spinal Muscular Atrophy (also known as Werdnig-Hoffmann disease)
- Type II Spinal Muscular Atrophy
- Type III Spinal Muscular Atrophy (also known as Kugelberg-Welander disease)
- Type IV Spinal Muscular Atrophy
Symptoms
Symptoms of Spinal Muscular Atrophy may include muscle weakness and poor muscle tone, difficulty breathing, problems feeding and swallowing, developmental delays, and in severe cases, curvature of the spine (scoliosis).
Causes
Spinal Muscular Atrophy is caused by mutations in the SMN1 gene. This gene provides instructions for making a protein that is critical for the maintenance of motor neurons. If the SMN1 gene is mutated, the body cannot produce enough of this protein, leading to the death of motor neurons and resulting in the muscle weakness and wasting seen in Spinal Muscular Atrophy.
Treatment
There is currently no cure for Spinal Muscular Atrophy. However, treatment can manage symptoms and improve quality of life. Treatment options may include physical therapy, respiratory care, and medications such as Nusinersen and Onasemnogene abeparvovec.
See Also
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