Spinal muscular atrophy (SMA) is a disease that affects the central nervous system in children and babies. Although it might occur during the late teens or early adulthood, it’s comparatively more common in children. When an individual is affected by spinal muscular atrophy, the nerve cells in their brain and spinal cord are broken down, making the nerves unable to send signals to the muscles.

Due to the lack of signal from the motor neurons, the muscles shrivel and turn fragile. As a result, the affected person may not be able to walk or sit without assistance, control their neck and head movements, and could experience breathing problems as well. There is no cure for this disease, but the right treatment options for spinal muscular atrophy are available to provide relief and prevent complications.

Diagnosis
Upon noticing symptoms like muscle weakness and loss of motor functions, a doctor might recommend a physical examination. Family history could also be examined since it is a genetic condition. These tests are conducted to examine the condition of the muscle and reflexes. Based on the diagnosis, the doctor can recommend some treatment options for spinal muscular atrophy. Some of the common diagnostic procedures are:

• Blood test
  Blood tests are conducted to check the levels of creatine kinase enzyme that is secreted by weak muscles. While high levels of creatinine kinase enzyme do not necessarily indicate spinal muscular atrophy, they are a tell-tale sign of muscle damage.
• Muscle biopsy
  This procedure involves the extraction of a muscle sample to be examined in a laboratory.
• Electromyography
  This procedure is used to see if the nerves are sending electrical signals to the muscles. Surface electrodes are attached to the patient’s skin to check the strength of the signals.
• MRI scan
  Magnetic resonance imaging involves the use of radio waves and magnets to examine the internal structure of the patient.
• CT scan
  This is another imaging technique used to examine the internal structure of the patient’s body.
• Nerve conduction velocity
  This involves placing electrodes on the skin’s surface to the nerve to check the speed of conduction.

Causes
Spinal muscular atrophy occurs due to the mutation of the survival motor neuron gene. These genes are responsible for making a protein that facilitates motor functions. SMN protein deficiency is the main cause of this disease. Genetic testing can reveal the amount of SMN protein present. With this, the severity of the disease can be estimated.

A child might inherit such genetics from their parents. However, there is only a 25% chance of the child getting affected.

The treatment options for spinal muscular atrophy are based on the severity of the condition, which can be determined by the above mentioned diagnostic tests. With proper treatment and care, the patient can regain some of their motor functions over time.