The diagnosis of SMA disease, i.e. spinal muscular atrophy, is made through the clinical manifestations of the child, electromyography, genetic diagnosis results, and muscle biopsy to help clarify the disease.
1. Clinical manifestations: Typical clinical manifestations of SMA are symmetrical muscle weakness, decreased muscle tone, progressive respiratory muscle weakness, scoliosis, etc. The disease can be diagnosed by the results of electromyography (EMG) and genetic diagnosis.
2. Electromyography: Electromyography can assist in the diagnosis of the disease when it shows neurogenic changes.
3. Genetic test results: SMA disease is an autosomal recessive disease and can be diagnosed by genetic testing.
4. Muscle biopsy: Pathological biopsy of muscles can reveal hypertrophy of muscle fibers in patients with SMA type 1 and atrophy of muscle fibers in patients with SMA type 2 and type 3.
The above tests can help patients to confirm the diagnosis of SMA disease, and it is recommended that patients actively undergo the relevant tests and receive timely treatment according to the doctor’s instructions after diagnosis of the disease.