Spinal Muscular Atrophy

Spinal muscular atrophy is a congenital neuromuscular (involving the nerves and muscles) disease, affecting parts of the brain, brain stem, and spinal cord. It is classified into four types with decreasing clinical severity and increasing age of onset.

Symptoms

• Symmetric muscle atrophy and weakness in muscles closer to the body, such as paraspinal muscles but extending to the extremities.
• In infants, this usually presents as difficulties sitting and rolling. It can progress to involve the muscles of breathing.

Diagnosis

Spinal muscular dystrophy is diagnosed with a blood test. The test looks for the presence of the SMN1 gene. The SMN1 gene is absent in 95% of those with the disease and mutated in the other 5%.

Treatment

Treatments for this disease are ever-changing; however, one of the mainstays is performing a lumbar puncture with the injection of a medication called Spinraza. This is typically done every two weeks for the first four treatments and then spaced out to every four months for the rest of the patient's life.