Spinal muscular atrophy type 2 treated with risdiplam at the Instituto Nacional de Salud del Niño - San Borja: a case report

Abstract

Spinal  muscular  atrophy  (SMA)  is  a  common  pediatric  neuromuscular  disease  characterized  by  progressive  muscle  weakness,  hypotonia,  and  symmetrical  muscle  atrophy.  In  Peru,  the  treatment  of  SMA  primarily  involves  the  use  of  the  drugs  risdiplam  and  nusinersen.  We  present  the  case  of  a  seven-year-old boy with SMA type 2 treated with risdiplam. The patient was referred to the cardiology department  of  a  national  pediatric  referral  center  in  Lima,  Peru.  The  patient  exhibited  quadriparesis,  hypotonia,  preserved  osteotendinous  reflexes,  intact  sensory  function,  and  the  ability  to  stand  with  support.  Risdiplam  treatment  was  initiated  under  compassionate  use.  The  response  to  treatment  was  favorable,  with  improvements  in  motor  function  scale  scores  and  noticeable  clinical  enhancements  in  movement  quality  and  speed.  Follow-up  radiographs  revealed  mild  dorsal  scoliosis  (10°  Cobb  angle),  while pulmonary function was preserved (FVC = 85 %). Despite its efficacy, access to risdiplam remains challenging for SMA patients due to its high cost, highlighting the importance of sharing this case with the scientific community.