Spinal muscular atrophy (SMA) is a disease characterized by progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of the voluntary muscles. This weakness is often more severe in the legs than in the arms. Spinal muscular atrophy (SMA) affects the nerves in an area of the spinal cord called the anterior horn. These nerve cells become damaged, breaking the link between the brain and the muscles. As a result, the muscles can't be used and become wasted or atrophied.
The diagnosis of spinal muscular atrophy is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. During the physical examination, the physician will obtain a complete medical history of patients, and he/she may also ask if there is a family history of any medical problems.
Diagnostic tests that may be performed to confirm the diagnosis of spinal muscular atrophy include the following:
1. Blood tests
2. Muscle biopsy - a small sample of the muscle is removed and examined to determine and confirm a diagnosis.
3. Genetic tests - diagnostic tests that evaluate for conditions that have a tendency to run in families.
4. Electromyogram (EMG) - a test that measures the electrical activity of a muscle or a group of muscles. An EMG can detect abnormal electrical muscle activity due to diseases and neuromuscular conditions.
Currently, there is no cure or treatment to repair the nerve damage, but support care including physio and respiratory drainage are very important. Within affected families, once the abnormal gene has been identified, carriers can be detected by a blood test, and antenatal screening using CVS (chorionic villus sampling) is available.
Some may appear to be stable for protracted periods, but improvement is not to be expected by using Western Medicine.
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