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.
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%.
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.
A lumbar puncture is used to collect a sample of the fluid that surrounds the brain or spinal cord to make a diagnosis and treat conditions.