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Prajakta Arvind Vengurlekar*, Neha Baban Doiphode, Darshad Umesh Rane and Akhil S. Kanekar


Spinal Muscular Atrophy (SMA) is inherited neurodegenerative disorder caused by homozygous deletion of survival motor neuron (SMN) type 1 gene i.e. associated with spinal motor neuron loss. It’s a genetic disorder in which a person cannot control the movement of muscles due to loss of nerve cells in spinal cord and brainstem. It is characterized by progressive muscle weakness and low muscle tone (hypotonia). The symptom begins within months after birth and if not treated it may be fatal. It causes muscle wasting and weakness and affects the control of voluntary muscle movement like difficult for person to stand, walk, respiratory distress problems and in some cases to feed & swallow. Early detections & treatment suggests that therapy is most effective when started in first few months of life of SMA. There are four forms of SMA which are classified based on severity of condition & age at which symptoms begin. Here we are going to discuss about SMA type 1, which is the most severe and frequent form. Over the last few years from 2016 US, FDA has approved three drugs which increase life expectancy & advance of drug and therapies have improved survival and quality of life but the cost of drug is expensive. Hence, it's a challenge to secure funding. This topic summarizes the knowledge and fact about SMA.

Keywords: Spinal muscular Atrophy, Motor Neuron, SMN protein, Acute Infantile, Gene therapy.

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