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Spinal Muscular Atrophy – A Genetic Disorder

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person holding babys hand

Spinal muscular atrophy (SMA) is a rare genetic disorder, characterized by muscle weakness. It is mostly found in children.

Vedika Shinde, a thirteen months old girl from Pune, Maharashtra died on 1st August 2021 due to Spinal muscular atrophy. 

At the age of 5 months, Vedika was diagnosed with Spinal muscular atrophy, symptomized with difficulty in holding neck and falling sideways. The doctor suggested Inj Zolgensma as a ray of hope to treat her. 

A 16 crore injection was administered through crowdfunding and people all over India, happy to see her recovery. After a month of injection, suddenly while playing she felt breathless, her parents took her to the hospital immediately and she was kept on the ventilator. But her struggle to live ended there and she left this world. 

After this incident people reached out to me to write about her and to write about this rare disease. 

What is Spinal muscular atrophy?

SMA is mostly found in newborn babies and children. Children were unable to use their muscles and move around. 

In this condition, the brain stops sending signals to control movements. So, the muscles of the children become weak. And your child finds difficulty in holding the neck, sitting upright, or in some cases, it may cause breathing difficulty.

Causes

Spinal muscular atrophy is a genetic disorder. This disease can be passed from you to your child. If both parents pass the broken gene your child can get SMA. If only one of the parents passes the gene to the child, he becomes a carrier. The child must not show the symptoms, but when he grows up he can pass it to his own child.

Types

There are 5 types of SMA

Type 0 – This is the most severe type of SMA. When you are pregnant the baby moves less in the womb. They are born with joint problems, weak muscle tone, and weak muscles of the respiratory system.

Type 1 – This is also a severe type of SMA. Baby with this type is unable to hold his head or sit straight. They have fluffy limbs and severe weakness of lung muscles. Due to breathing difficulty, the child’s age limit is restricted to 2 years only.

Type 2 – This is also known as chronic infantile SMA. this type is mostly seen in the child between the ages of 6-18 months. Disease affects lower limbs of child. A child can sit, walk and stand only with support.

Type 3 – This type is also known as Juveniles SMA or Kugelberg – Welander disease. This is mostly seen in children aged between 2-17 years. This is a mild form of SMA. In this type, your child can walk, sit and stand, but is unable to run or climb stairs.

Type 4 – This type can start in your adulthood. You can experience muscle weakness, muscle twitching – mostly in the hands and legs and. You are able to walk, run normally. With exercise, you can get better.

Diagnosis – 

Spinal muscular atrophy initially noticed by parents only. With the observation given by parents, it becomes easy for doctors to take further steps of investigation.

Your doctor may suggest the following test for a child.

  • EMG – NCV – It’s a nerve conduction test. In this test the doctor can put some patches on your child’s skin and send electrical impulses with the help of a machine, to see if nerves are able to pass signals to muscles.
  • MRI – This will help your doctor to see the picture of your child’s organs.
  • Muscle biopsy – This is an important test to finalize the diagnosis. small parts of muscles are removed through the needle for diagnosis.

Treatment

Treatment of SMA is very costly. FDA approved Spinraza, Zolgensma, and Evrysdi for treatment of it. They are a form of gene therapy.

But along with this Physiotherapy plays a major role in the treatment of SMA. Exercise helps to bring muscle strength and movement.

Breathing exercise helps to gain muscle strength of lung muscles. 

Doctors may suggest splints and braces to support limbs and the spine.

Due to weakness of the muscles of the throat and digestive system, your child can find difficulty in swallowing. That may cause malnutrition in your child. Consult a nutritionist as per your doctor’s advice. Or may your doctor put Ryles tube through the nose of the child. So feeding through that to fulfill nutritional requirements.

Conclusion 

  • Spinal muscular atrophy is a rare genetic disease that affects mostly children.
  • It is not curable, but with the help of doctors and physiotherapists, you can give a few quality years of life to the child.
  • You may need different doctors like 

Neurologist – for nerve treatment

Pulmonologist – for lung treatment

Orthopedics – for bone treatment

Gastroenterologist – for nutrition and gastric problems

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