
Dr.Uddhav kinhal
736 posts

Dr.Uddhav kinhal
@UddhavaKinhal
Child neurologist.





I can see the atrophy is quite advanced with fixed contractures and there is also mild deformational changes to the spine. He is not SMA type 1, seems like type 2(although type 1,type 2,type 3 categorisation is now getting obsolete and being replaced by number of copy number variants of SMN2 gene with advent of genetic testing nowadays-SMA is to be seen as a continuum than a categorised division of motor ability). SMA has typically 3 therapeutic options: 1.ZOLGENSMA (the much talked about gene therapy costing 16 crores- which is a one time IV infusion) It is recommended for children under 2 years of age. So in this child with (by his length I am assuming he is above 2 years or going to be 2 years very soon) As such there is no absolute contraindication for ZOLGENSMA but practically speaking with his severe advanced atrophy/contractures and spinal deformation - he is not likely to have much benefit. Only expected outcome would be that the child will maintain whatever muscle is still left out and prevent progression to respiratory muscles and bulbar muscles in the foreseeable future. 2. Intrathecal NUSINERSEN- approx cost of 96 lakhs per vial: dosing scheduled as - 4 loading doses,each given 1 month apart and there after one dose every 4th month - indefinitely (life long). Not readily available in India, has to be imported and takes a lot of bureaucratic help. Although a theoretical possibility in this child,but practical possibility is bleak (owing to lot of bureaucracy involved with clearances from airport authority ,maintenance of cold chain). Realistically child will maintain whatever left over muscles are there and might show mild improvement in hand functions(smaller muscles). 3.Oral RISDIPLAM - weight based dosing(comes as 80ml dry powder to be converted to suspension by adding purified water). Manufactured by SWISS company ROCHE. Till recently each bottle costed about 5 to 6 lakhs but since the last year (with intervention from the Supreme Court, the drug is now allowed for local manufacturing and dispensing), cost of Risdiplam (Natco) is about 12,000 to 16,000 INR. Each bottle will last about 20 to 30 days (actually depends on the weight of the child). Practically in this child (assuming he is more than 2 years), I would only recommend Oral RISDIPLAM, physiotherapy, respiratory therapy and influenza vaccine every year. If he is less than 2 years, considering his advanced atrophy with fixed contractures- I would still recommend oral Risdiplam alone and not try the 16 crore Zolgensma(which has no real world results to see in such advanced atrophic cases). Combination therapy even though feasible is not a practical option here. People emotions often run high for childhood illnesses and some governments do respond to it,which is sometimes good as it can give impetus to push the government to think and invest in rare diseases,which is a win for rare disease enthusiasts like @aditya_gan3500 and @Neuroptimist23 Personally, I would request the Govt to invest efforts and money on prenatal carrier frequency testing of SMA along with Thalassemia, Sickle cell anemia.





back in Bangalore after over a year and nothing has changed

































