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SMA (Spinal Muscular Atrophy): World’s Costliest Disease

Spinal Muscular Atrophy treatment in india

Spinal Muscular Atrophy is rare neuromuscular disease that affects the physical motion of affected person, impacting the ability to walk, eat and breathe. SMA directly impacts the motor neuron in the spinal cord and wasting of muscle, the age group affected by SMA is from early childhood to adulthood. Universally, the ratio of SMA is 1 in 6000 or 1 in 10,000, categorized as a rare disease, but the mortality rate is very high.Life expectancy is less than two years.Though SMA completely hampers the vital physical motion of the affect individual, it does not have any impact on person’s ability to think, learn, understand or built any relationship which translated that a person is sound by mind.

Types of SMA(Spinal Muscular Atrophy) : -

SMA has wide range of classification, depending upon the beginning of symptoms or severity it has reached in the individual.

  • SMA Type 1 - Also known as “ Werdnig Hoffman Disease”. The age of onset is infantile, from 0 -6 months. SMA 1 is among the most severe. This type accounts for 50 - 60 % in all the SMA cases. The mortality rate is very high as infant affected by SMA 1 experiences many physical challenge like muscle weakness, respiratory issues, coughing and swallowing. The statistics of infants affected by SMA type 1 is depressing as 68 % of the children affected by SMA type 1 does not celebrate their second birthday and 82 % of children does not survive till 4th year.
  • SMA Type 2 - Also known as “Dubowitz Disease”. The arrival of SMA type 2 is from 6 months - 18 months. Intermediate SMA affect individual may gain slight motor movements such as sit up without help or sit up in a chair, but requires assistance while walking or require a wheelchair, along with development of respiratory and swallowing problems.Many childrens suffering from SMA type 2 develops Scoliosis with age. The lifespan increases and there are cases where children with SMA type 2 have lived into adulthood with proper care and medications.
  • SMA Type 3 - Known as “ Kugelberg - Welander Disease”. The onset of SMA Type 3 is after 12 -18 months but before 3 years of age.Also considered as Juvenile stage SMA. Person affected may have independent physical movement ability, such as walk without any support, but with time, physical movement reduces and loses the ability to walk till the age of 14 years. The lifespan is as normal human being, with no breathing, coughing or swallowing issues.
  • SMA Type 4 - This is also referred as “Late Onset SMA type 3”. The symptoms of SMA Type 4 are witnessed in 30’s - 40’s of life. Muscle weakness, Scoliosis and muscle tremors and  twitching are present throughout the life. Life span is not affected and individual affected by SMA type 4 lives average human life years.

 

SMA is caused by genetic mutation and passed through from parents to childrens. Basically, SMA is caused by mutation in a neuron called Survival Motor Neuron SMN protein -also referred as SMN protein. This SMN protein is critical for the nervous which control our muscles. But with genetic mutation, the physical movement is affected.

Why World’s costliest Disease ?

In USA, FDA ( Food And Drug Administration) has approved a durg for the treatment of Spinal Muscular Atrophy - SMA, one time gene therapy which would costs whopping US $ 2.1 million.

 

Such costs of drug will be a huge disadvantage for majority of the parents whose children suffer from SMA type One. Pharmaceuticals companies should strive to bring drug costs within the affordability of majority of people. It is a responsibility of global NGOs, corporations, and global health organisations to make healthcare affordable to every person, primarily to people from less privileged parts of the world.

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