Objectives Spinal Muscular Atrophy (SMA) is the commonest monogenic cause of infant mortality. The prevalence of SMA is recently suggested to be more prevalent in Africans than in those with European ancestry. The challenge encountered in our setting is delayed diagnosis resulting in late access to medication. We aim to increase evidence on the efficacy of Risdiplam in patients who present late, with severe compromise. Method We conducted a case series of four patients on follow up from September 2021 for SMA type 2 with severely limited motor skills and on treatment with Risdiplam. We assessed the disease course using the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), conducted after every 6 months. Results The patients’ ages ranged from 2 years to 5 years. Two patients had never attained independent mobility and were on respiratory support. The patients who had attained independent mobility passed on. The two patients on respiratory support showed improvements in their respiratory functions, demonstrated by reduction in amount of time on and off Continuous Positive Airway Pressure (CPAP) and on reduction in ventilator settings. There was 50% CHOP-INTEND improvement noted in one patient and gain of motor function in the ventilator-dependent patient who had zero scores on baseline. Conclusion Risdiplam demonstrated improvement in patients on respiratory support and shows promising evidence of acquisition of motor skills in patients with no gross motor function on CHOP-INTEND.

Maureen Njoroge
Thika Level 5 hospital, Kiambu County Government
Kenya

Sam Gwer
Kenyatta University
Kenya