Other specified spinal muscular atrophy (SMA) is a genetic disorder caused by a mutation in the survival motor neuron gene 1 (SMN1) located on chromosome 5. This mutation leads to a lack of production of the survival motor neuron protein, which is essential for normal functioning of the muscles.
Diagnosis of other specified SMA is made by analyzing an individual’s medical history and physical examination. Genetic testing can also be used to confirm the diagnosis.
Differential diagnosis for other specified SMA includes muscular dystrophy, myasthenia gravis, and peripheral neuropathy.
Treatment options for other specified SMA include physical therapy and occupational therapy. Medications such as cholinesterase inhibitors and immunomodulators can also be used to help manage symptoms.
The prognosis for other specified SMA depends on the individual’s age and severity of symptoms. In general, those with mild symptoms have a better prognosis than those with more severe symptoms. With early diagnosis and appropriate treatment, the prognosis is generally good.