Authors (including presenting author) :
Leung MTC(1),Chen TMK(1),Au MK(1),Chan VWM(1),Chau RMW(1)
Affiliation :
(1)Physiotherapy Department, Kowloon Hospital
Introduction :
Spinal muscular atrophy (SMA) is a neuromuscular disorder with progressive muscle weakness. It is a genetic disorder caused by abnormal Survival Motor Neuron (SMN) 1 gene. In the severe form, Type I, the typical natural history is reliance on assisted ventilation or death before age of 2. A new drug, Nusinersen, which alters the SMN2 gene to compensate for protein production of the abnormal SMN1 gene, was introduced to Hong Kong under the Expanded Access Program in 2018. This case report shares the progress of a boy with Type I SMA after receiving Nusinersen.
Objectives :
To describe the physiotherapy management and treatment progress in a boy with Type I SMA after receiving Nusinersen.
Methodology :
This is a case report of a boy (MN) with Type I SMA with 3 copies of SMN2 gene and started Nusinersen. The clinical record was retrieved for information on physiotherapy assessment and treatment before and after starting Nusinersen. Narrative information from the patient and his parents was also reviewed.
Result & Outcome :
MN is a 7-year-old boy, a non-sitter with physiotherapy began before age of 1. He started nocturnal BIPAP cum Cough Assist at age of 2. His physiotherapy program comprised of pulmonary care, 24-hour positioning program, hydrotherapy, strengthening, stretching and supported standing. Home program was implemented for continuity of care with comprehensive orthoses and equipment as indicated. MN commenced Nusinersen at age of 6 and received 6 doses till date. There was improvement in muscle power of small muscles, mainly orofacial, elbow, wrist and hand. He had reduced oromotor hypersensitivity and complaint of positioning discomfort. Orofacial myofunctional therapy was introduced to promote nose breathing and coordinated breathing with swallowing. His speech was louder, clearer with spilling of unswallowed saliva diminished. The family reported reduced time of chest physiotherapy, decreased snoring, frequency of turning at night, longer sleep time and improved oral intake. Functionally, parents reported successful attempts of self-feeding with plastic spoon and writing. His positioning tolerance of supported sitting and standing increased to 4 hours and 1 hour respectively. Recent advances in medication, Nusinersen, introduces a new exciting era for Type I SMA management and enhanced role of physiotherapists. The authors hope this case report might help to build up as a local care reference.
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