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Spinal Muscular Atrophy (Sma) Mutation Detection

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  • SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION

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Sample

BLOOD

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Gender

Both

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Age group

7 years & above

Spinal muscular atrophy (SMA) is a genetic neuromuscular disease that causes muscles to weaken over time. Individuals infected with spinal muscular atrophy lose motor neurons (nerve cells in the spinal cord), which are responsible for controlling the movement of muscles. The absence of these neurons can cause muscles to not receive nerve signals that help with the movement.

An individual with this neuromuscular disease takes over two copies of the faulty SMN1 gene. Out of the two copies, one is inherited from the father and the other from the mother. An individual can carry one copy of the faulty gene that causes spinal muscular atrophy and be unaware of it.

This neurological disease has four major types – type 1, type 2, type 3, and type 4. In type 1, spinal muscular atrophy symptoms occur at the time of childbirth or within the first six months of an infant's life. Such infants have difficulty sucking and swallowing. They fail to meet basic milestones like sitting or keeping their heads up. Since their muscles weaken, they are at a high risk of respiratory infections and damaged lungs. Most children do not receive appropriate spinal muscular atrophy treatment and die before the second year of their birth.

Under type 2 of this disease, spinal muscular atrophy symptoms appear when the children are between six months to eighteen months. This particular type generally affects the lower legs. Kids infected with this type may practice sitting but cannot walk. Since it does not affect the children as severely, with appropriate spinal muscular atrophy treatment, most of them live till they are adults.

Under type 3, the spinal muscular atrophy symptoms occur after a child has lived for eighteen months. Some children or young adults don’t develop signs and symptoms of this neurological disease till they enter adulthood.

The symptoms include difficulty walking due to muscle weakness and recurring infections in the respiratory tract. These can worsen over time and affect the ability to perform functions like walking or standing. However, this type does not significantly threaten life expectancy like other types.

Type 4 spinal muscular atrophy does not occur until an individual reaches their mid-30s. Under this type, spinal muscular atrophy symptoms such as muscle weakness progress slowly. Hence, most patients with this type function well and can walk and live their whole lives.

At Apollo 24|7, you can opt for a spinal muscular atrophy test to:

  • Detect the type of SMA gene inherited by you
  • Find an appropriate spinal muscular atrophy treatment
     

Medically reviewed by Dr. Vijay Kishore Kondreddy, orthopedics from Apollo Hospitals Greams Road, Chennai.

faqFrequently Asked Questions (FAQs)

Frequently asked questions

Individuals with this disease either have a faulty part of the SMN1 gene or a mutated gene. The SMN1 does not produce enough protein and causes the neurons to get smaller in size and die. Additionally, some individuals have SMN2 genes, which are responsible for producing a little amount of protein. There may be about eight duplicates of this gene, and it may typically lead to less serious symptoms.
The symptoms largely depend on the types of SMA. Generally, individuals experience reduced muscle control, strength, and movement. This gets worse as a person ages. Over time, it severely affects the muscles nearest to the neck and torso. Some individuals with this disease can never walk, stand, or sit.
Your doctor or healthcare provider may order a spinal muscular atrophy test to detect and treat spinal muscular atrophy symptoms. It can be a simple blood sample test that checks for high creatine kinase levels.
Spinal muscular atrophy treatment depends upon the type of spinal muscular atrophy and its respective symptoms. There is no cure or treatment for the disease. Some people may get relief from occupational and physical therapy. However, in most cases, assistive devices like crutches, wheelchairs, walkers, and orthopaedic braces are helpful.
You must contact your doctor or healthcare provider if you experience the following symptoms: Cough, pneumonia, or difficulty breathing Diarrhoea, vomiting, or nausea Fever Dehydration and its subsequent signs such as extreme fatigue or dark-coloured urine
The life expectancy and quality largely depend on the various types of SMA. If the infants develop type 1 at childbirth, they’re not likely to survive till their second year. Those children that have type 2 or type 3 may survive their entire lives. However, that depends on the severity of the symptoms. Individuals who develop it during adulthood with type 4 are likely to live a normal and active life.

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The information mentioned above is meant for educational purposes only and should not be taken as a substitute to your Physician’s advice. It is highly recommended that the customer consults with a qualified healthcare professional to interpret test results