Spinal muscular atrophy (SMA) is a genetic disorder that causes weakness and wasting of skeletal muscles (muscles used for movement) of infants and children, and more rarely, in adults. The disease is progressive, which means with age, there is a worsening of muscle weakness. The condition doesn’t have a complete cure. However, with progress in science and medicine, SMA’s children and adults lead a better quality of life now. If you live in Pune and have a child with SMA, you can book an appointment with a neurologist in Pune online.
Causes of SMA:
SMA is caused by either missing or defective gene called SMN1. In other words, it means that one copy or missing copy of the faulty gene from each parent (2 in total) is needed to cause the condition.
The defective genes produce low survival motor neuron (SMN) protein levels, which is essential to motor neurons. Due to insufficient SMN protein, motor neurons die, and muscles become weak as they cannot contract.
Effect: SMA impacts the motor nerves of the spinal cord. When you want to move, the motor nerves convey the message from your brain to the muscles, asking them to move. In SMA, there is a breakdown of the nerve cells due to which the message doesn’t reach the muscles, causing wasting and weakness of muscle and loss of function. As a result, children with SMA can have trouble controlling head movement, difficulty crawling, sitting and walking. In some cases, it may also affect the ability to breathe and swallow.
Who is at risk?
If both parents are carriers, they have a 1 in 4 chance of having a child with SMA with each pregnancy. A child is more at risk for SMA if they have a parent or sibling with the disease.
What are the symptoms?
SMA is a complex disorder affecting each child differently. There are five types of SMA. The onset of SMA and the severity of the symptoms depend on which type of SMA the person has. The earlier, the onset of symptoms, the more severe is the prognosis of the disease.
- Type 0: This is the rarest and most severe type that begins before birth with babies moving less in the womb. Newborns have weak muscle tone, weak muscles for breathing and joint or heart defects. Many die within six months after birth.
- Type 1: This is a severe type of SMA that may be present at birth. It is also called Werdnig-Hoffman or infantile-onset SMA. Infants have problems sucking, feeding, swallowing and holding up their head. SMA majorly affects the muscles that control breathing. Most of the children with type1 SMA don’t survive beyond two due to breathing problems. Families need constant advice from a medical team. Do not let financial worries like the doctor’s fees add to your woes. Most neurologists accept health cards like Bajaj Health EMI card to allow patients to pay in easy instalments.
- Type 2: It is also called intermediary SMA and affects children 6-18 months old. It usually affects the legs more than the arms. The affected children can sit when placed in a sitting position, but can’t sit by themselves. They may live up to adulthood though with the support of braces, walker or wheelchair.
- Type 3: It is also called Kugelberg-Welander disease or juvenile SMA. It is the mildest form of the disease as the progression of the disease is much slower. The child may walk independently, but have difficulty running and climbing stairs. Your child may require a wheelchair or assisted mobility devices later in life.
- Type 4: This SMA form affects adults, mostly in their thirties and forties. The upper arms and legs are the areas impacted. Though you will have symptoms all your life, you can continue to move and even get better with physiotherapists’ exercises and help.
Diagnosis: If your child shows any symptoms of SMA or has missed any motor milestone, see a doctor, visit a neurologist in Pune. After examining the symptoms, the doctor will order tests like nerve tests like electromyogram, CT scan, MRI and muscle tissue biopsy.
At present, there is no cure for SMA, but you can get help for your child in many ways. Doctors aim to prolong survival and improve quality of life of those affected. If SMA is left untreated, the condition worsens. So visit a doctor without delay. As most doctors accept Bajaj health EMI card, you can pay in easy monthly instalments.
- Medicines: Some modern medications are now available to help improve breathing difficulties, muscle strength and motor function.
- Physiotherapy: Though it cannot restore lost muscle strength, physiotherapy can help maintain muscle function.
- Respirator: Your child may need to use a respirator for breathing difficulties.
- Scoliosis: Curvature of the spine is common in SMA and may sometimes require surgery to correct it.
- Feeding: Children may have difficulty swallowing and require a feeding tube or suctioning.