apollo

Spinal Muscular Atrophy (Sma) Mutation Detection in Chennai

No preparation required

MRP760025% off
5700
circle logo₹1140 cashback

testsTest(s) Included (1)

  • SPINAL MUSCULAR ATROPHY (SMA) MUTATION DETECTION

    1 test included

    expand

About

blood sample
SAMPLE TYPE

BLOOD

Gender
GENDER

Both

users
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)

What is the cause of spinal muscular atrophy?

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.

What are some of the common symptoms of spinal muscular atrophy 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.

How is spinal muscular atrophy diagnosed?

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.

What is the treatment for spinal muscular atrophy?

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.

When should you get the spinal muscular atrophy test?

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

How do people with spinal muscular atrophy live their lives?

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.

Book Popular Tests in Chennai

Hba1c (glycated Hemoglobin) in Chennai | Cholesterol - Serum in Chennai | Complete Urine Examination (cue) in Chennai | Glucose, Fasting in Chennai | Glucose, Random in Chennai | Creatinine - Serum in Chennai | C-reactive Protein (crp) - Quantitative in Chennai | Culture And Sensitivity - Urine (automated) in Chennai | Prothrombin Time (pt/inr) in Chennai | Erythrocyte Sedimentation Rate (esr) in Chennai | Beta Hcg (total) in Chennai | Uric Acid - Serum in Chennai | Electrolytes - Serum in Chennai | Urea And Creatinine in Chennai | Blood Group Abo And Rh Factor in Chennai | Ferritin in Chennai | Vitamin B12 in Chennai | Hbsag Screening - Rapid in Chennai | Prolactin in Chennai

Book Spinal Muscular Atrophy (Sma) Mutation Detection in Other Cities

Spinal Muscular Atrophy (sma) Mutation Detection in Delhi | Spinal Muscular Atrophy (sma) Mutation Detection in Noida | Spinal Muscular Atrophy (sma) Mutation Detection in Faridabad | Spinal Muscular Atrophy (sma) Mutation Detection in Gurugram | Spinal Muscular Atrophy (sma) Mutation Detection in Ghaziabad | Spinal Muscular Atrophy (sma) Mutation Detection in Hyderabad | Spinal Muscular Atrophy (sma) Mutation Detection in Bangalore | Spinal Muscular Atrophy (sma) Mutation Detection in Kolkata | Spinal Muscular Atrophy (sma) Mutation Detection in Chennai | Spinal Muscular Atrophy (sma) Mutation Detection in Mumbai | Spinal Muscular Atrophy (sma) Mutation Detection in Ahmedabad | Spinal Muscular Atrophy (sma) Mutation Detection in Pune | Spinal Muscular Atrophy (sma) Mutation Detection in Lucknow | Spinal Muscular Atrophy (sma) Mutation Detection in Vizag | Spinal Muscular Atrophy (sma) Mutation Detection in Vijayawada

Book Popular Packages in Chennai

Apollo Prime Health Plan in Chennai | Apollo Thyroid Assessment - Basic in Chennai | Apollo Vitamin Check - Basic in Chennai | Apollo Diabetes Panel - Basic in Chennai | Apollo Full Body Check - Advance I in Chennai

Book Spinal Muscular Atrophy (Sma) Mutation Detection Near You

Spinal Muscular Atrophy (sma) Mutation Detection in Annai Sathya Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in Chennai Central Railway Police Station | Spinal Muscular Atrophy (sma) Mutation Detection in Chromepet | Spinal Muscular Atrophy (sma) Mutation Detection in Kolapakkam | Spinal Muscular Atrophy (sma) Mutation Detection in Medavakkam | Spinal Muscular Atrophy (sma) Mutation Detection in Palavakkam | Spinal Muscular Atrophy (sma) Mutation Detection in Panaiyur | Spinal Muscular Atrophy (sma) Mutation Detection in Perambur | Spinal Muscular Atrophy (sma) Mutation Detection in Porur | Spinal Muscular Atrophy (sma) Mutation Detection in Selaiyur | Spinal Muscular Atrophy (sma) Mutation Detection in Shivaji Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in Srinivasa Puram | Spinal Muscular Atrophy (sma) Mutation Detection in Tansi Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in Vadapalani | Spinal Muscular Atrophy (sma) Mutation Detection in Madipakkam | Spinal Muscular Atrophy (sma) Mutation Detection in Pallavaram | Spinal Muscular Atrophy (sma) Mutation Detection in Periya Lake | Spinal Muscular Atrophy (sma) Mutation Detection in Alwarpet | Spinal Muscular Atrophy (sma) Mutation Detection in Koyambedu | Spinal Muscular Atrophy (sma) Mutation Detection in Adyar | Spinal Muscular Atrophy (sma) Mutation Detection in Velachery | Spinal Muscular Atrophy (sma) Mutation Detection in Anna Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in Ayanavaram | Spinal Muscular Atrophy (sma) Mutation Detection in Chennai Tiruvallur High Road | Spinal Muscular Atrophy (sma) Mutation Detection in Egmore | Spinal Muscular Atrophy (sma) Mutation Detection in Sathya Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in T. Nagar | Spinal Muscular Atrophy (sma) Mutation Detection in Tana St

Why should Apollo be your preferred healthcare partner?

  • 40 Years of legacy and credibility in the healthcare industry.
  • NABL certified multi-channel digital healthcare platform.
  • Affordable diagnostic solutions with timely and accurate test results.
  • Up to 60% discount on Doorstep Diagnostic Tests, Home Sample Collection.
  • An inventory of over 100+ laboratories, spread across the country, operating out of 120+ cities with 1200+ collection centers, serving over 1800+ pin codes.

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