Spinal muscular atrophy (SMA) is a neurodegenerative disorder that usually affects babies and children. In simple terms, it weakens the muscles progressively, making it harder to use them. The nerve cells in the brain have a breakdown with the spinal cord. Hence, the brain is unable to control muscle movement. Various types of SMA can affect an individual in infancy and even in adulthood. Currently, no specific cure is there to treat SMA. A neurologist in Mumbai can help in managing the condition with the help of various experimental therapies. The treatment may need several visits over a long time, and a health card can take care of your finances.
What Is The Cause Of Spinal Muscular Atrophy?
Spinal muscular atrophy is an inherited disease. A child can get it due to broken gene copies passed down by each parent. The two copies of broken genes disable the body from producing a particular type of protein. Due to deficiency of this protein, the cells responsible for muscle control die. A child who inherits faulty genes from a single parent will not suffer from SMA but will become the ailment carrier.
What Are The Various Types Of Spinal Muscular Atrophy?
It is an acute and rare type of SMA that can develop during pregnancy. There is less movement by the baby in the womb, which results in weak muscle tone, joint issues, and breathing problems. The survival rate is low in type 0.
Another severe form of SMA wherein a child is unable to sit or support the head without help. Breathing issues increase due to muscle weakness. It is characterized by floppy arms and difficulty in swallowing. Usually, a child survives only till the age of two.
Known as Chronic Infantile SMA, it develops in children from 6 months to 18 months old. Usually, the symptoms are prominent in the legs than arms and can range from moderate to acute. The child can sit, walk and stand with support.
Type 3 is known as Juvenile SMA or Kugelberg-Welander disease. It is the mildest form of SMA that affects children 2-17 years old. Patients can sit, walk and stand without help but have difficulty running, getting up from chairs, or climbing stairs.
This type of SMA starts developing in adulthood. You may experience twitching, muscle weakness, and breathing problems. Generally, upper arms and legs are most affected. With the help of physical therapy, you can lead an everyday life.
What Are The Treatments Available For SMA?
In SMA, a patient’s body cannot create a protein known as a survival motor neuron.SMN1 gene and SMN2 gene both give instructions to the body for producing this protein. Hence, treatments usually focus on the condition’s severity.
The FDA has approved only three medications to treat SMA.
Spinraza is the first disease-modifying therapy that the FDA approved. It modifies the SMN2 gene for protein production. It can be used for treating both adults and children. ALmost 40% of people experience improvement in their condition and muscle strength.
It involves delivering a copy of a healthy SMN1 gene to the body through a genetically engineered virus. Generally, children under the age of two are treated with this medication. It can help children in achieving developmental milestones such as sitting without support and controlling their head movement.
This treatment is the first oral medication for treating all types of SMA. It can be given to patients older than two months. It focuses on stopping SMN2, which causes protein production problems and allows the protein to reach the nerve cells as per requirement.
A neurologist in Mumbai recommends physical therapy with other experimental treatments for preventing complications.
Physical therapy can help improve the range of motions and maintain muscle strength with tailor-made exercise regimes for as long as possible. Though too much exercise can put exertion and do more harm than good. So consult your doctor first.
In SMA Type 1 and 2, weak muscles can create severe breathing issues. Hence, your doctor may prescribe breathing aids such as masks that can provide ventilation to support the patient’s proper oxygen flow.
A patient may struggle with chewing and swallowing due to a weak jaw and through muscles. For managing proper nutrition, a carefully regulated diet will be planned out. In severe cases, feeding tubes may be needed for food intake.
Sometimes, scoliosis- curved spine issues are present in SMA patients. Hence, special braces may be needed for back support. If the curve is significant, then a spine straightening surgery will be required.
Treating Spinal Muscular Atrophy requires grit and patience. A health card can help in tough times by offering financial support. Consult a neurologist in Mumbai before finalizing any treatment.