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 main types of spinal muscular atrophy: Type I, Type II, Type III, and Type IV. The types are distinguished by the age of onset and the severity of symptoms. Type I is the most severe and most common form, while Type IV is the least common and affects adults.
Symptoms
Symptoms of spinal muscular atrophy can vary widely and may include muscle weakness and atrophy, difficulty breathing, difficulty swallowing, and impaired mobility.
Causes
Spinal muscular atrophy is caused by a mutation in the SMN1 gene. This gene is responsible for the production of a protein necessary for the survival of motor neurons. Without this protein, motor neurons die, leading to muscle weakness and atrophy.
Diagnosis
Diagnosis of spinal muscular atrophy is typically made through genetic testing, which can identify the SMN1 mutation. Other tests, such as electromyography or nerve conduction studies, may also be used.
Treatment
While there is currently no cure for spinal muscular atrophy, treatment can help manage symptoms and improve quality of life. This may include physical therapy, respiratory care, and medications such as nusinersen and onasemnogene abeparvovec.
Prognosis
The prognosis for individuals with spinal muscular atrophy varies depending on the type and severity of the condition. Some individuals may have a normal lifespan with mild disability, while others may experience severe disability and shortened lifespan.
See also
External links
- Medical encyclopedia article on Spinal muscular atrophy
- Wikipedia's article - Spinal muscular atrophy
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