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Queen Square Centre for Neuromuscular Diseases

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Department of Paediatrics and Child Health, Steve Biko Academic Hospital, University of Pretoria

Co-Investigator: Prof Izelle Smuts; MBChB, MMed (Paed), FC Paed (SA), PhD

Izelle Smuts

Clinical neuromuscular expertise, patients and geographical region: The Paediatric Neurology Unit at this institution is accredited with the HPCSA as a training unit for paediatric neurologists. The entire spectrum of paediatric neurology and neurodevelopmental disorders, including epilepsy, neuromuscular disorders, ADHD, autism and cerebral palsy is managed. The neurology clinic (lead Prof Smuts) manages the entire spectrum of paediatric neurology and developmental disorders. The clinic, which serves a child population of ± 5.1 million for three northern provinces of SA, is a dedicated multi-disciplinary centre and hosts four neuromuscular clinics per annum, which are ±3% (±210) of total patients.

Genetics and preclinical science expertise and facilities: The genetic services of the NHLS is mostly used. Research programmes on the molecular genetics of mitochondrial disorders are done in collaboration with the North-West University.

Current research programmes: The research focus has been on mitochondrial disorders in the South African context. The patient profile is unique and management requires often a pragmatic approach. Novel answers are sought to explain the unique character of the patients.

Top five publications from the past five years: Schoonen M, Smuts I, Louw R, Elson JL, van Dyk E, Jonck L-M, Rodenburg R, van der Westhuizen FH. Panel-based nuclear and mitochondrial next-generation sequencing outcomes of an ethnically diverse paediatric patient cohort with mitochondrial disease. Journal of Molecular Diagnostics in press.

Louw R, Smuts I, Wilsenach, K-L, Jonck L-M, Schoonen M, van der Westhuizen FH. The dilemma of diagnosing Q10 deficiency in muscle. 2018. Molecular Genetics and Metabolism 125, 38-43.

van der Westhuizen FH, Smuts I, Honey E, Louw R, Schoonen M, Jonck L-M, Dercksen M. 2018. A novel mutation in ETFDH manifesting as severe neonatal-onset multiple acyl-CoA dehydrogenase deficiency. Journal of the Neurological Sciences 384, 121-125.

Venter L, Lindeque Z, Jansen van Rensburg PJ, Van der Westhuizen FH, Smuts I, Louw R. Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies. Metabolomics 11:111-121, 2015.

Van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau, S, Malik AN, Sweeney MG, Tsai Y, Towers G W, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper M, Elson Jl. Understanding the implications of mitochondrial DNA variation in the health of Black Southern African populations. The 2014 workshop. Human Mutation 36:569-571, 2015.

How the new international centre will benefit research and clinical programmes: Participation with the ICGNMD will extend the capacities for both genetic diagnostics and research on a broader scope of NMD than what was available. It will offer new opportunities to provide answers to under-studied patients and provide an opportunity to collaborate on a greater national and international scale.