Causes, Types, and Management of Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) affects the nerve cells in one’s brain stem and spinal cord. Such a hereditary condition severely deteriorates muscular activity, including walking, talking, sitting, and even breathing. According to SMA Foundation, this rare neuromuscular disease affects one in 6,000 to 10,000 individuals. Approximately 6 million people in the country are carriers of the defective SMA gene. Here, we discuss the causes, signs, and management methods to tackle this condition better.
Causes
Spinal muscular atrophy is passed to children through their parents’ genes. People suffering from it commonly have a missing or defective survival motor neuron-1 gene (SMN1). This defect leads to insufficient production of the SMN protein, which affects the motor neurons in the spinal cord responsible for sending signals to the muscles. SMA usually starts early in life and mainly affects the trunk, upper leg, and arm muscles. Less common types of spinal muscular atrophy include the mutation in the VAPB gene, the DYNC1H1 gene, the BICD2 gene, and the UBA1 gene on chromosomes 20, 14, 9, and X, respectively. Based on the type of defect, the symptoms, severity of muscle weakness, and prognosis can change. In some cases, the types may even overlap.
Types and Symptoms
As motor neurons shrink or die, the brain loses control over the body. An early sign of SMA is a gradual loss of control over physical movements, mainly of the neck, arms, legs, and head. One can also develop a curve or bend in the spine. Generally, SMA can be divided into four types, as given below:
Type 1
Also known as infantile-onset SMA, Type 1 is a severe condition where infants younger than six months find it difficult to sit, suckle, breathe and swallow. As a result, their muscles weaken significantly and may develop skeletal abnormalities. They may also suffer from lung collapse and respiratory infections.
Type 2
A child with a Type 2 or intermediate SMA shows early symptoms between 6 and 18 months. They can sit down but cannot walk due to weakened lower limbs. They also face respiratory problems like hypoventilation. Type 2 is relatively less deadly than Type 1, and youngsters have a chance to live into adolescence or young adulthood.
Type 3
Also known as Juvenile-onset SMA, it is comparatively milder and develops in children after 18 months. Children with Type 3 SMA experience mild muscle weakness but can walk independently. They may find it difficult to get off a chair, run, or climb stairs. If left untreated, they can develop scoliosis or the chronic shortening of tendons around joints. Common disease-modifying treatments can help manage it.
Type 4
This type of spinal muscular atrophy is a rare condition in adults that develops after age 21 and accounts for a low percentage of all cases. As far as symptoms are concerned, one may experience mild to moderate muscle weakness.
The majority of SMA types impact men and women equally. According to the Muscular Dystrophy Association, men are more likely to get SMA only in the case of a UBA1 gene mutation on the X chromosome. This occurrence is because men do not carry the second X chromosome that females do, which protects them from experiencing the full effect of the mutation.
Diagnosis and Management
SMA can be diagnosed with conventional blood tests that detect gene mutations. The tests can also show if a relatively healthy person is a defective gene carrier. If blood tests or a person’s family history do not give a necessary diagnosis, a doctor may use muscle biopsy, nerve conduction velocity studies, or electromyography. These tests help in recording a person’s muscle and neurological activity.
Although there is currently no cure for SMA, gene replacement therapies allow one to control the symptoms and live healthier lives. They replace the missing SMN1 gene with a functioning one and are suitable for kids below two years. In addition, other disease-modifying therapies focus on boosting the production of the SMN protein. They are ideal for kids between 2 and 12. Apart from the treatments mentioned above, here are a few home remedies that can support healing.
Breathing Assistance Devices
Those with compromised respiratory function may use a special mask or mouthpiece to strengthen breathing. One can also use an at-home breathing machine if the issue persists or worsens.
Light Exercises
Occupational and physical therapies can help with posture, protect joints, and slow down muscular atrophy and weakness. For instance, a doctor may recommend simple, light exercises and stretching to keep one’s mobility intact, improve range of motion, and maintain blood circulation.
Using Support
If walking proves excruciating, one can use additional support like a walker or wheelchair.
Foods to Have and Avoid
SMA may lead to muscle weakness in the throat and mouth, so eating foods that are easy to chew and swallow is necessary. For example, one may opt for smoothly mashed potatoes, yogurt, soups, juices, pureed food, and other thickened liquids. Avoiding high-fat foods like meat with tendons or cartilage, bread, and sticky food like rice is a must. Those who cannot chew or swallow may need a feeding tube in severe cases.
Long-term neuromuscular diseases like spinal muscular atrophy gradually worsen with time. Those with this condition may also require intensive care from various medical specialists. If the symptoms prevail, it’s advisable to consult a healthcare professional immediately. Families and friends are the best physical and emotional support for them. So, near and dear ones are urged to discuss and prepare for potential medical emergencies.