What is Spinal Muscular Atrophy, the rare genetic disorder whose drug costs Rs 17.5 crore?

On Tuesday, September 12, Delhi Chief Minister Arvind Kejriwal met with the family of 18-month-old Kanav, a boy diagnosed with a rare genetic disorder known as spinal muscular atrophy (SMA). The Delhi government, in coordination with the Central government, procured Zolgensma, one of the world's most expensive drugs, worth Rs 17.5 crore, used in the treatment of this disease.

Due to the Central government removing the import duty on the drug and the drug manufacturer agreeing to sell it at a reduced price, the family was fortunate to obtain the drug for Rs 10.5 crore. The child's parents raised the money through crowdfunding, facilitated by AAP MP Sanjiv Arora.

दिल्ली के डेढ़ साल के कनव को जन्म से ही SMA नाम की गंभीर बीमारी है। देश में अब तक ऐसे कुल 9 मामले ही हैं। इस बच्चे को 17.5 करोड़ का इंजेक्शन लगना था जो अमेरिका से आना था।

इस छोटे बच्चे को एक नई ज़िंदगी देने के लिए हमारे सांसद संजीव अरोड़ा जी और संजय सिंह जी के प्रयासों और जनता… pic.twitter.com/m8bkrffDt1

— Arvind Kejriwal (@ArvindKejriwal) September 12, 2023

Kanav is the only child in the national capital diagnosed with this disease. In total, nine children in the country have been diagnosed with this genetic disorder.

What happens in this disease?

• SMA is a disorder that affects motor neurons, nerve cells that control voluntary movement, and are located in the spinal cord.
• In this disease, the muscles in the central part of the body, including the shoulders, hips, thighs, and upper back, become weak, and the affected child may become confined to a wheelchair due to the development of a spine curve.
• Since the muscles cannot respond to the signals from the nerves, they atrophy, weakening and shrinking from inactivity.
• According to data from John Hopkins Medicine, one out of every 6,000 children in the world is born with SMA. It is one of the most prevalent genetic disorders affecting young children and is a major cause of infant mortality.
• Although it can affect children at any age, SMA in infancy and early childhood is associated with worse outcomes. Children who develop symptoms later in childhood or adolescence usually have a more positive prognosis.

  

   

Is there any cure for this disorder?

Since this is a genetic disorder, there is currently no cure for SMA. The available drugs only ease the symptoms and prevent complications that might develop later in life.

In Kanav's case, the government procured the drug Zolgensma, which is gene therapy administered to children under 2 years old to prevent the progression of the disease.

In essence, Zolgensma is not a cure for SMA, and it cannot reverse the damage caused by SMA before treatment.

Zolgensma halts the progression of SMA and sustains the remaining muscle function needed for children to survive. The earlier Zolgensma treatment is administered, the better the preservation of muscle function.

How can you prevent SMA in children?

Since it is an inherited disease, there is no way to prevent it. The most one can do is to undergo medical tests if the child exhibits symptoms.

Genetic testing, electromyography, and muscle biopsy are some tests used to detect SMA in children.

Treating SMA early in childhood prevents future complications and also enhances the quality of the child's life.