EventsGeneral Health

Exploring SMA diagnosis and treatments in India

Genetic disorders usually involve a mutation in the gene or the chromosome. Although many of the genetic disorders have defined management and treatment strategies, Spinal Muscular Atrophy (SMA) has fewer solutions, especially in India. 

MedPiper Technologies and Journomed had conducted a webinar on 18th September, 2021 which further explored the mysterious disorder and the lack of awareness regarding SMA in India. The speaker, Ms. Archana Panda, the co-founder and director of patient advocacy of CureSMA India, discussed at length about the difficulties that children and individuals suffering from SMA face. CureSMA is a parent-led, self-funded, pan India certified non profit organization that offers help to SMA patients and their families through getting them in contact with the respective healthcare professionals, counselors and insurance providers. The organization aims to improve the quality of life of these patients and enable better management of the deadly disorder. 

SMA is a group of hereditary diseases that progressively destroys motor neurons in the brainstem and spinal cord which control essential muscular activities leading to muscle weakness and atrophy. SMA is caused by defects in both copies of the survival motor neuron 1 (SMA1) gene on chromosome 5q. This gene produces the survival motor neuron (SMN) protein which maintains the health and normal function of motor neurons. Individuals with SMA have insufficient levels of the SMN protein, leading to the loss of motor neurons in the spinal cord causing skeletal muscle weakness and atrophy. 

Related Articles

The weakness tends to be more severe in the muscles that are close to the center of the body compared to muscles away from the body’s center. Muscle weakness usually worsens with age. There are five types of spinal muscular atrophy that are caused by changes in the same genes and differ in age of onset and severity of muscle weakness. 

  1. Type 0 is the most severe form that affects a baby while still in the womb, evidenced by reduced fetal movements in the later stages of pregnancy. At birth, infants with this SMA type typically present with severe weakness, extremely weak muscle tone causing floppiness, and respiratory failure. Babies with this type normally do not survive for more than 36 hours. 
  2. Type 1 is seen in babies aging from 1-6 months of age and have a very short life expectancy, not making it past early childhood. By the time the genetic test is done to determine the severity of the disease, the patient would have succumbed to SMA related complications such as pneumonia. A simple cold and cough can progress to pneumonia after which the infant patient is put under a ventilator (this in turn puts a lot of stress on its body). If the patient is not ventilated, a lethal cardiac arrest occurs. 
  3. Type 2 is characterized by muscle weakness that develops in children between ages 6 and 12 months. Children with this type can sit without support, although they may need help getting to a seated position. However, as the muscle weakness worsens later in childhood, affected individuals may need support to sit. Individuals with spinal muscular atrophy Type 2 cannot stand or walk unaided.
  4. Type 3 typically causes muscle weakness after early childhood. Individuals with this condition can stand and walk unaided, but over time, walking and climbing stairs may become increasingly difficult. Many affected individuals require wheelchair assistance later in life. 
  5. Type 4 is rare and often begins in early adulthood. Affected individuals usually experience mild to moderate muscle weakness, tremors, and mild breathing problems. People with spinal muscular atrophy Type 4 have a normal life expectancy.

Children with SMA have a weak respiratory system and can easily suffer from aspiration pneumonia (when the food particles get into the windpipe). A simple cold and cough can easily progress to pneumonia. Scoliosis of the spine takes place over time which can cause problems with the lungs and these patients also tend to suffer from irritable bowel syndrome and gastro esophageal reflux disorder. 

SMA used to be considered as a death sentence. Advancements in medicine and emergence of better management strategies has now made SMA a treatable disorder. It took almost twenty years to develop a drug to treat the major symptoms of SMA. Three therapies – Biogen’s Spinraza (nusinersen), Roche’s Evrysdi (risdiplam), and Novartis’ gene therapy Zolgensma – have become available since 2016 with risdiplam being approved by the FDA. These drugs have the potential to slow or even prevent progression of most of the main types of the disease. 

In India, the access, availability and affordability for these treatments are very low. CureSMA India works to help patients to get in touch with the healthcare professionals and provide mental health options for the families who tend to undergo depression. They offer early intervention strategies through multidisciplinary action. The foundation aims to make risdiplam therapy an available and affordable option in India. CureSMA also strives to get rid of the social stigma associated with SMA and look at sustainable approaches to treating the disorder.

Show More

Related Articles

Leave a Reply

Back to top button