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The world's most expensive injection 'Zolganesma' worth Rs 17 crore has reached Jaipur. This injection will give life to Little Heart suffering from a rare genetic disease 'Spinal Muscular Atrophy'. Let us know why this special injection from America is so expensive and what is this rare disease.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that causes weak muscles in infants, making it difficult to perform physical activities. In today's article we will learn in detail about spinal muscular atrophy. It includes its symptoms, causes, diagnosis and treatment possibilities.
What is Spinal Muscular Atrophy (SMA)?
Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder. In this, due to a defect in an important gene, the body is unable to produce sufficient amounts of SMN1 protein. This protein is essential for maintaining healthy muscles and their functionality for nerve cells. Due to deficiency of SMN1 protein, muscles gradually become weak, causing difficulty in performing physical activities.
Types of SMA
There are four main types of SMA, divided based on the severity of the disease and the time of onset of symptoms.
SMA type 1 (Werdnig-Hoffmann disease): This is the most severe type, usually appearing within a few months of birth. In this condition, children have difficulty in breathing, they are not able to even lift their heads and the development of muscles stops.
SMA Type 2 (Intermediate SMA): This is a moderately severe type, with symptoms usually appearing between 6 months and 18 months of age. Children can sit in it but have difficulty in standing or walking.
SMA type 3 (Kugelberg-Welander disease): This is the least severe type, usually beginning in childhood or adulthood. In this, muscle weakness gradually increases and difficulty in walking begins.
SMA type 4 (adult-onset SMA): This is a rare form of SMA that occurs in adults. Its symptoms gradually increase, including fatigue, muscle weakness and tremors.
symptoms of sma
Symptoms of SMA can vary depending on the type and severity of the disease, but some common symptoms include
Difficulty in breastfeeding babies
– muscle weakness
– Difficulty with physical activities, such as sitting, standing, standing or walking
– Difficulty in breathing
– muscle cramps
– difficulty swallowing.
due to sma
SMA is a genetic disease that is inherited from parents. It is caused by a defect in the SMN1 gene, which produces a protein essential for the development and survival of motor neurons. Bad genes cause not enough protein to be produced, resulting in motor neurons getting damaged and dying.
Diagnosis and treatment
SMA can be diagnosed by a variety of methods, including genetic testing, blood tests, and electromyography (EMG). Although there is no cure for SMA, some treatments can help reduce symptoms and improve quality of life. A medicine called Zolgensma has been made to treat this disease.
What is Zolgensma?
Zolgensma, developed by the Swiss pharmaceutical company Novartis, is designed to treat SMA. Zolgensma delivers a functional copy of the SMN gene into motor neuron cells, improving muscle movement and function in children with SMA.
Why is Zolgensma priced so high?
According to experts, the price of Zolgensma in India is around Rs 17 crore as it involves a lot of research and development. Limited market size and ability to save lives are also the reasons for its high price. Although its initial cost is high, experts argue that the long-term benefits of Zolgensma may offset the health care costs associated with SMA treatment and care.