Abstract

Spinal Muscular Atrophy (SMA) is an autosomal recessive neuromuscular disorder that causes muscle atrophy and weakness. Although at present there is no cure, several effective disease-modifying treatments have become available in recent years. However, there are currently no recommendations on the management of therapy sequencing involving these new treatments. An 11-year-old girl with SMA type 2 was initiated on treatment with nusinersen resulting in significant improvement in her motor and respiratory function. However, after nine doses, treatment was changed to the orphan drug risdiplam due to its more suitable route of administration given the patient’s recent history of coxalgia related to the spinal fusion surgery she underwent in January 2019. Five weeks into treatment with risdiplam the patient developed medication-related leucocytoclastic vasculitis and treatment was switched back to nusinersen.

This case report provides insight on how a patient that required several changes in therapy was managed in real-life clinical practice.

Keywords:Spinal muscular atrophy; Treatment; Nusinersen; Risdiplam; Paediatric

Abbreviations: FVC: Forced Vital Capacity; HFMSE: Hammersmith Functional Motor Scale Expanded Capacity; SMA: Spinal Muscular Atrophy; SMN: Survival Motor Neuron; RULM: Revised Upper Limb Module