Spinal Muscular Atrophy (SMA)

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About SMA


Spinal Muscular Atrophy (SMA) refers to a group of diseases which affect the motor neurons of the spinal cord and the brain stem. These are very important cells that are responsible for sending signals to the muscle cells. Without proper input from the motor neuron, the muscle cells will become much smaller (atrophy) and will produce symptoms of muscle weakness. Degeneration and death of the motor neurons in the key organs such as brain and spinal cord leads to weakness in the muscles connected with swallowing, breathing and walking. The incidence of SMA is between 1 in 6000 to 1 in 10,000 live births with a carrier frequency of 1 in 50 all over the world. There are 4 types of SMA which can be categorized according to the age of onset, mode of inheritance, distribution of muscle weakness and progression of symptoms. The most common cause of SMA is due to deficiency of a motor neuron protein called SMN (Survival Motor Neuron).

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WHY

Public Health to us at MDCRC is about the community at large. The health of the community at different levels and when seen through different perspectives becomes a subject which is complete, holistic and is a melting pot for a plethora of technical disciplines. At MDCRC we do align with a goal of working for community health by working on modular projects related to Women and Child health, disease prevention, Health informatics, Community building and its associated research, Water resources, Arts, Indic Sciences, Cultural issues which are relevant to the contemporary generation. The style which we adopt is to focus on totally neglected aspects and form a working model towards a better situation. The need for this approach is to bring back the glory of humanity in general and which percolates to a healthier India.

The disorders in current focus are Orphan disorders, meaning disorders whose numbers are said to be less (in the Western diaspora) which neither doesn’t majorly impact the community’s currently used health metric nor does it provide a base for extensive drug research and its production. This view is only true until the numbers are low and also the way we look at Public health in general. There had been no concerted efforts in the domain of Orphan disorders in India. Mission of ours then, was to bring the science, the services pertaining to a particular problem statement and which thereby gives rise to an evolution of a model. This forges a way of approaching Health from a community standpoint thereby offering an impactful experience to all stake-holders. This is where the core culture MDCRC comes in where we believe that in Public Health domain in particular, the science and the associated services need to reach mankind at large without a number bias or number crunching.

With a background in Biochemistry and Genetics, Dr. Lakshmi, in 2006 had started working on genetic disorders with specific emphasis on community building.

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