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SMA

Spinal Musclar Atrophy is a rare genetic disorder affecting the central nervous system. The absense or non-working of Survival Muscle Neuorn 1 (SMA) gene causes this SMA condition. SMA protein a special protein responsible for communication with muscles, is produced by this SMA1 gene.

SMA Types

  • SMA Type 0
  • SMA Type 1
  • SMA Type 2
  • SMA Type 3
  • Finkel Type SMA
  • SMARD1

SMA Type 1 is the most severe type where the children die before the age of 2.

Gene Therapy

Zolgensma

Zolgensma also referred as Onasemnogene Abeparvovec-xioi [ATC Code - M09AX09]. This medication is a one-time injection gene therapy which consists of two parts - a gene and a vector. Gene is the working copy of the human SMN gene that replaces the SMN1 gene. The vector is made from a virus named adeno-associated virus 9. This vector delivers the new genes very quickly to the motor neuron cells.

This medication is used only on prescription. The medicine is believed to be one of the costliest medicine sold today. Approx. in Indian Rupee, it costs 16 Crores.

Spinraza

Spinraza also known as Nusinersen [ATC Code - M09AX07]

Scenarios in India

A study reports that 1 in 10,000 kids may diagonise with SMA. In India, roughly 800 children may have SMA. Below reporting some of the cases found in news/social media/crowd funding platforms.

  • Baby Noor Fatima, Rajasthan (3-years old)
  • Ayaansh Gupta, Hyderabad (3-years old)
  • Vihaan, Gujarat (4-years old)
  • Dhairyaraj Sinh, Mahisagar
  • Vivan Vadhel, Gir Somnath
  • Mohammed, Kannur (1.5 years old)
  • Guruchith, Kottayam (8-years old)
  • Imran, Kozhikode (6-months old)
  • Mithrra, Namakkal (2-years old)
  • Bharathi, Thanjavur (2-years old)
  • Zuha Zainab, Coimbatore (8-months old)
  • Mithansh S Devadiga, Udupi ()
  • Shivraj Daware, Nashik [Free through a lucky draw]
  • Arshia Humayubhai Chandavanwala, (4-years old) [SMA2]
  • Varun (17-years old) and Kavya (8-years old) [SMA2]
  • Kartik Girishbhai Nair (14-years old) [SMA2]
  • Ritik Rahulbhai Sharma (6.5-years old) [SMA2]
  • Dhrumit Riteshbhai Patel (3.5-years old) [SMA2]
  • Anupratha Apurva Majmudar (20-years old) [SMA3]
  • Hitiksha Shaileshbhai Patidar (4-years old) [SMA2]
  • Aaina Junedbhai Mansuri (4-years old) [SMA2]

Organisation Working on SMA

CureSMA Foundation