Spinal muscle atrophy is the condition that usually affects infants and is identified by difficulty with muscle usage. Although there’s no cure for the condition, with timely treatment, the symptoms can be relieved, and further complications can be prevented. So, here’s what you should know about diagnosis and treatments for spinal muscle atrophy.

Spinal muscle atrophy diagnosis
Usually, the diagnosis of spinal muscle atrophy is done through a blood test. A blood test can determine the presence of the SMN1 gene. In around 95 percent of the cases, this gene will not be found. In about 5 percent of the cases, this gene will be found to be mutated. The symptoms of spinal muscle atrophy can be similar to several other conditions. Therefore, if the doctor suspects that the infant might have spinal muscle atrophy, he might order some tests to rule out other conditions. These tests can include:

• Nerve tests
  During these tests, small patches are put on the child’s skin, and then electrical impulses are sent through nerves. This is done to check if these messages are being sent to the muscle or not.
• Computed tomography
  This can be ordered to get detailed pictures inside the body of the child. This is a more potent form of X-ray and helps in diagnosing the condition better.
• Magnetic resonance imaging or MRI
  This is another test that can be ordered by the doctor to diagnose muscle atrophy. With the help of an MRI, the doctors can get images of structures and organs inside the child’s body.
• Muscle tissue biopsy
  Muscle cells are removed using a needle, to conduct this test. The needle is inserted into the muscle to remove the cells, or a tiny cut is made on the child’s skin.

Spinal muscle atrophy treatment
At present, there is no cure for the condition. The treatment provided to the children focuses on getting relief from the symptoms, preventing further complications related to the disease, and giving a better quality of life to the children. The type and course of treatment for the condition will be decided by the doctor based on the age of the child and how severe the condition has become.

The treatment can include the following:

• Medication
  There are two medications approved by the FDA to treat spinal muscle atrophy: nusinersen and onasemnogene abeparvovec-xioi. These provide gene therapy affecting the gene, which is related to the condition.
• Masks and breathing machines
  In type 1 and 2 spinal muscle atrophy cases, weakness in the muscles can prevent easy breathing. In such cases, a mask or a mouthpiece can be required. In severe cases, a breathing machine can also be prescribed.
• Feeding tube
  When throat and mouth muscles start getting affected by the condition, it can create problems while swallowing and sucking food. This can lead to poor nutrition in the body of the child. Hence, in such cases, a feeding tube can be prescribed.

These were the diagnosis and treatments for spinal muscle atrophy to help you understand the disease better.