Introduction: Spinal Muscular Atrophy is a devastating heterogeneous condition, which is a most commonly caused by an autosomal recessive deletion in the SMN1 gene¹. With the advent of disease modifying therapy, though currently unavailable in India, there is increasing focus on making supportive care more robust in children affected by this condition.

Methods: A retrospective study was done looking at the database of a single neuromuscular centre in South India over a period of 15 years. A total of 109 children with confirmed SMN1 homozygous mutations were included.

Results: Of the total of 109 affected children 82 (75%) had SMA type1, 15 (13.7%) had SMA type 2, 9 (8.2%) had SMA type 3 and in 3 (2.7%) children the type could not be determined as they were seen only once between the ages of 2 and 5 years with the ability to sit. 87 of the total 109 children died, which included all the children with SMA type 1 and a third (5/15) of the children with SMA type 2.

Conclusion: Spinal Muscular Atrophy is a devastating disease where disease-modifying therapies might soon make its way to India. This makes the need for registries very pressing so that we are then geared later on for newborn screening for SMA in order to benefit from the window of opportunity for effective early treatment.

References:

1. Reed U C et al Arq.Neuro-Psiquiatr.2018 Apr;76(4) 265-272