Children are vulnerable to many diseases and infections. This is because their body functions are sensitive and immunity is comparatively low. But apart from infection there are some diseases which might occur to them from childhood. This includes muscle weakness, bone problems and poor nervous response. One of the muscular problems that could affect children’s life from the very beginning is that of spinal muscular atrophy. It is mostly an inherited disease which is caused by increasing muscular and nervous weakness. Today we will look in detain about this disease in children and know various causes and symptoms for this muscular problem.
What is Spinal Muscular Atrophy?
Spinal muscular atrophy is a genetic disease which affects nervous system and muscles to become significantly weak. This affects children in the early stages and makes them take some kind of assistance in form of medical equipments. We spoke to Dr. Ranjan Mehta, Consultant in Department of Orthopedic Department from Ivory Hospital, Greater Noida. He told us that even though there are minimal cases of spinal muscular atrophy, parents need to examine their children well before if there are diseases linked to muscle weakness, osteoporosis or SMA in their family.
People with spinal muscular atrophy have weakness in particular nerve which affects spinal strength and makes them unable to put pressure on their spinal. Without these motor neurons, muscles do not receive nerve signals and hence make your muscles weak. This disease may also affect muscles to become smaller and weaker due to lack of use.
Symptoms of Spinal Muscular Atrophy
Symptoms of this disease depend from every individual. Every child may get affected by different nerve which may cause spinal muscular atrophy to occur. Symptoms of this disease get worse with age and muscles which are closest to torso and neck. Children with this muscle disease may have following symptoms-
- Inability in children to walk
- Poor muscles reflexes
- Pain and discomfort in neck
- Unable to sit for long hours
- Disbalanced while sitting or standing
What Causes Spinal Muscular Atrophy?
Cause of spinal muscle atrophy is children are not so easy to understand. Doctor explains that spinal muscular atrophy is because of SMN1 gene and could be mutated into another gene. It is possible that SMN1 gene could produce spinal motor neuron protein which enables a person to function properly.
Children that get this mutation of spinal muscle atrophy can shrink their muscles and there is even a possibility of death if this remains untreated. This can happen only when the body is insufficient to make adequate amount of SMN protein. This problem grows over years in children and their brain function cannot control those muscles any further, its voluntary tendency becomes flattened thus causing disability in children.
People including children affected by spinal muscular atrophy with SMN2 gene could produce small amount of SMN protein. As a result they do not lose total control over their functions and muscles but their ability to control the movement decreases to a significant level. Having multiple copies of this gene could result to non SMN mutations and cause spinal muscular atrophy.
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Complications Associated with Muscular Atrophy
There could be possibility of complications in the children because of this muscular disease. It is because spinal muscular atrophy makes them lose control over functions and nervous response and leads to these diseases-
- Bone fractures
- Dehydration due to malnutrition in the particular organ or part of the body
- Problem in swallowing food or drinking water where head functions are affected
- Hip dislocation and scoliosis
- Pneumonia and respiratory infections present in the body
- Having weak lung functions and problems associated with breathing abilities
Treatment Options for Spinal Muscular Atrophy
Unfortunately there is no particular cure for Spinal muscular atrophy. It is evident that this disease could possibly affect children from their childhood and cause problems growing up and doing routine activities. However there are some therapies which may prove to be beneficial in lowering the amount of risk and increasing functions in the body. Apart from these therapies, mostly children need to take help from crutches, walkers and wheelchairs.
1. Disease-modifying therapy
This is a therapy which is used to promote production of SMN proteins in the body. It consists of different drugs given at different stages to lower the symptoms. For children nusinersen is given, usually from age 2 years to 12 years of age. In this the drug is infected into the spinal cord and space around it. This particularly eases symptoms and increases neuron functions in nearby muscles over the years.
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2. Gene replacement therapy
Since this disease affects children from childhood when they are born, therefore there is another gene therapy which may be effective for those children. This is only given till the time; spinal cord is getting developed that is between ages of 0-2 years. One-time intravenous infusion of drug is given to replace a missing or problematic SMN gene present in the spinal muscle. This drug is called zolgensma.
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