Spinal Muscular Atrophy (SMA) is a condition where motor neurons in the spinal cord and the brainstem gradually decay and lose the ability to communicate with muscles of the body. Spinal Muscular Atrophy (SMA) occurs due to the mutation and defects in the SMN1 gene. As the motor neurons don’t communicate with the muscles of the body, the patient, typically a young child, faces problems in normal motor function. Over time, these muscles weaken and shrink due to a lack of use.

The defects in the SMN1 gene which cause SMA are passed down from one generation to the next. Indians are at a much higher risk for Spinal Muscular Atrophy as compared to other nationalities. The genetic carrier frequency of defective SMN1 gene is 1 in 50 globally, while in India it is estimated to be 1 in 38. The higher proportion of people with defective genes in India is believed to be a result of the high proportion of endogamous marriages, meaning marriages within a closed group of caste, community and ethnicity, prevalent in India.

What is Spinal Muscular Atrophy (SMA)?

Spinal Muscular Atrophy (SMA) is a disease which impacts neurons located in the spinal cord. These neurons are the nerve cells that control voluntary movement. Any damage to them causes the muscles in the body to not respond to signals from the brain, which leads to muscles to gradually weaken and shrink. Hence the name of disease, Spinal Muscular Atrophy. The key muscles impacted by SMA are those in the chest, shoulders, hips, thighs and upper back.

SMA occurs mainly in young children but can appear in early adulthood. It is estimated that 1 in 7500 children at birth are impacted by Spinal Muscular Atrophy (SMA) in India. While SMA affects the muscles and movement of a child, it is important to note that it does not affect the logical or sensory ability of the child. The child will want to play, make friends, socialise and do all the things that normal children do. Caretakers need to understand this very important aspect.

 Types of Spinal Muscular Atrophy (SMA)

There are several types of Spinal Muscular Atrophy (SMA), classified based on the age of onset and the severity of symptoms:

1. Type 0: This is the most severe form of Spinal Muscular Atrophy (SMA), typically diagnosed before birth. Infants may show significant weakness, and respiratory failure, and may not survive long after birth.

2. Type 1 (Werdnig-Hoffmann disease): The onset of this type of Spinal Muscular Atrophy (SMA) occurs within the first six months of life. Babies often cannot sit independently and may have difficulty swallowing and breathing.

3. Type 2: Symptoms of this type of Spinal Muscular Atrophy (SMA) usually appear between 6 and 18 months. Children can sit but may not be able to walk independently. With support, they can lead relatively longer lives.

4. Type 3 (Kugelberg-Welander disease): The onset of this type of Spinal Muscular Atrophy (SMA) occurs after 18 months and may extend into adulthood. Individuals with Type 3 can walk, though they may experience weakness that affects mobility over time.

5. Type 4: This type of SMA typically appears in late adolescence or early adulthood, with milder symptoms and slower progression.

What are the risk factors & causes for Spinal Muscular Atrophy (SMA)?

Spinal Muscular Atrophy (SMA) is primarily caused by mutations in the SMN1 (Survival Motor Neuron 1) gene. This gene is crucial for the production of SMN protein which is essential for motor neurons to function. This defect in genes is passed down through families. Some individuals have a backup copy of the gene, SMN2, which produces some functional SMN protein but not enough to prevent motor neuron degeneration.

The primary risk factors for SMA are

1. Parental Gene: If both the parents have mutated SMN1 gene the chances of children being born with SMA is as high as 25%. If one parent is the carrier of this defective gene, their children most likely will not be affected by SMA but there is a 50% chance that they will be carriers of this defective gene. Hence it is important for couples getting married to check for this. The cost of testing in most Indian Metros is in the range of five to six thousand. It is a small investment to secure your future.

2. Ethnicity: Certain ethnic groups, such as those of Jewish & Asian descent, have a higher prevalence of SMA carriers. It’s not very clear as to why some ethnicities are more prone to SMA but endogamous marriages, which are closely identified with genetic defects, are widely believed to be a contributing factor.

Spinal Muscular Atrophy (SMA): Symptoms and Diagnosis

Key symptoms of Spinal Muscular Atrophy (SMA) are Muscle weakness, difficulty doing normal activities which children of the same age do easily, and breathing and swallowing difficulties. Diagnosis typically is done in combination with clinical evaluation and genetic testing. A neurologist will assess the patient’s motor function and may perform electromyography (EMG) to evaluate the electrical activity of muscles. Genetic testing can confirm the presence of mutations in the SMN1 gene.

Treatment Options for SMA & associated costs

There is no cure for Spinal Muscular Atrophy (SMA). However, with an increased understanding of the underlying causes of SMA as also how it affects muscle functions there are treatments which have been developed which help slow down the damage to neurons. Three key treatments that are available for SMA are:

1. Gene Therapy using Zolgensma

Gene Therapy attempts to attack the root cause of Spinal Muscular Atrophy (SMA), the missing SMN1 gene. Using medication Zolgensma, a drug developed by pharma company Novartis, the SMN gene is delivered to motor neuron cells enabling them to produce SMN protein. This therapy does not reverse the damage already caused in the patient but seeks to prevent further damage and is therefore used on children below the age of two.

Gene therapy is an expensive treatment and a single dose of Zolgensma costs Rs 17 crore in India. This drug is not manufactured in India and is not approved for usage. However, patients can import it with recommendations from doctors and permission from the government.

2. Nusinersen (Spinraza)

Another significant advancement is Nusinersen (Spinraza), an injection administered in the lower backside of the patient directly into the spinal cord. This type of injection is called intrathecal and the procedure is known as spinal tap. This drug modifies the SMN2 gene and gets these genes to produce SMN protein which the SMN1 gene in the body is not able to produce.

Nusinersen is commonly known as Spinraza and is approved for usage in India. It can be used for all types of SMA and can be administered to patients of any age. It improves motor function and prolongs survival. Spinraza is manufactured by the pharma company Biogen. A time dose of Nusinersen costs Rs 80-90 lac in India. One important aspect to note is that Spinraza, unlike gene therapy, is not a one-time dose. The first dose is followed by follow-up doses at 2, 4 and 9 weeks. After that has to be given every four months.

3. Risdiplam

Risdiplam (Evrysdi) is an oral medication that has also been approved for the treatment of SMA. Like Nusinersen, it enhances the production of the SMN protein from the SMN2 gene. Risdiplam dose is taken daily. Risdiplam is effective in both infants and older patients. A bottle of Risdiplam costs Rs 6.5 lac in India. It is manufactured by the pharma company Roche.

4. Palliative & Care

While novel therapies address the underlying genetic causes of SMA, supportive care remains crucial. This includes:

1. Physical Therapy: To improve strength, flexibility, and mobility.

2. Occupational Therapy: To assist in daily living activities.

3. Respiratory Support: As respiratory muscles weaken, interventions such as non-invasive ventilation may be necessary.

4. Nutritional Support: To address feeding difficulties and maintain healthy weight.

Is SMA treatment covered by insurance in India?

Most health plans in India don’t cover SMA treatment. However, various state governments in India offer support to SMA patients in the form of grants. Crowdfunding at Impact Guru, India’s leading crowdfunding platform, is also an option that can be explored.

Spinal Muscular Atrophy is a complex disease that impacts the lives of not only the patient but also their families. The high treatment costs add further burden. However, this is an area of research and every day scientists are discovering new ways to better the quality of the lives of SMA patients. Hence it is important to keep a hopeful and positive attitude.

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