Spinal Muscular Atrophy is a genetic disorder that affects the control of muscle movement. Spinal Muscular Atrophy is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord. As a result, the loss of motor neurons leads to weakness and wasting of muscles used for activities such as walking, sitting and controlling head movement. The signs of Spinal Muscular Atrophy include muscle weakness, tremor, twitching, breathing problems, and many more.
HOW IS SPINAL MUSCULAR ATROPHY DIAGNOSED?
A neurologist diagnosis this condition by the following tests:
• Erythrocyte sedimentation rate (ESR)
• CPK levels
• DNA testing to confirm diagnosis
• Electromyography (EMG)
• MRI of the spine
• Muscle biopsy
• Nerve conduction
• Serum amino acids
• Thyroid-stimulating hormone (TSH)
HOW IS SPINAL MUSCULAR ATROPHY TREATED?
There is no treatment for the weakness caused by the disease. Supportive care is important. Attention must be paid to the respiratory system because affected people have trouble protecting themselves from choking. Breathing complications are common.
Physical therapy is important to prevent contractions of muscles and tendons and abnormal curvature of the spine. Bracing may be needed.
DID YOU KNOW?
In severe cases of Spinal Muscular Atrophy, the muscles used for breathing and swallowing are affected.