Spinal muscular atrophy can be difficult to diagnose, as the symptoms can be similar to those of other conditions. Uncover the subtle signs of this genetic condition that affects muscle strength. With early detection, you can get personalized care for spinal muscular atrophy.
What is Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is a genetic disorder that affects the nerve cells (neurons) in the spinal cord and brain. These neurons are responsible for controlling muscle movement. In SMA, the neurons are either lost or damaged, which leads to muscle weakness and atrophy (wasting).
SMA is an autosomal recessive condition, which means that a person must inherit two copies of the defective gene to develop the condition. The gene that is mutated in SMA is called the survival motor neuron 1 (SMN1) gene. The SMN1 gene produces a protein that is essential for the survival of motor neurons.
SMA is classified into several types, with SMA type 1 being the most severe. 1 SMA type 1, also known as Werdnig-Hoffmann disease, usually presents in infants before the age of 6 months. Infants with SMA type 1 have severe muscle weakness and may have difficulty breathing and swallowing. They may also have skeletal deformities, such as scoliosis (curvature of the spine).
Spotting the Signs of Spinal Muscular Atrophy
The signs and symptoms of SMA can vary depending on the type of SMA and the age of the person affected. However, some common signs and symptoms include: 2
- Muscle weakness
- Difficulty crawling, walking, or standing
- Drooping of the head and shoulders
- Difficulty breathing
- Difficulty swallowing
- Scoliosis (curvature of the spine)
- Tremors
- Speech problems
If you are concerned that your child may have SMA, it is important to see a doctor for evaluation.
Early Detection of Spinal Muscular Atrophy
Early detection of SMA is important for ensuring that individuals receive the best possible care and treatment. Newborn screening for SMA is now available in many countries, and this has led to earlier diagnosis and treatment of the condition. Newborn screening involves testing a baby’s blood for the presence of the SMN1 gene mutation.
If a baby is diagnosed with SMA, they may be eligible for treatment with a medication called nusinersen (Spinraza). Nusinersen is a type of antisense oligonucleotide that works by increasing the production of the SMN protein. Nusinersen has been shown to improve motor function and survival in individuals with SMA.
Other treatments for SMA include physical therapy, occupational therapy, and respiratory support. These treatments can help to improve muscle strength, function, and quality of life.
Learn More About Spinal Muscular Atrophy
If you would like to learn more about spinal muscular atrophy, there are a number of resources available online. Some reputable sources include:
- The National Institute of Neurological Disorders and Stroke (NINDS)
- The Muscular Dystrophy Association (MDA)
- Spinal Muscular Atrophy Foundation