title: Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going?
abstract: Duchenne muscular dystrophy (DMD) is one of the most common and severe of the inherited dystrophies, with an incidence of 1 in 3 500 live, male births worldwide. Becker muscular dystrophy (BMD) has a lower incidence of 1:14 000 - 18 000 boys and a milder progression and longer life expectancy. Over the last two decades, better understanding of the underlying disease aetiology as well as major advances in medical technology have brought about significantly improved genetic diagnosis and clinical care for B/DMD patients. Exciting developments in the field of gene-based therapies have once again put B/DMD in the limelight, with renewed focus on the importance of comprehensive genetic testing protocols. We present a historical overview of the medical and molecular service for B/DMD offered over the last three decades in South Africa, specifically in the Western Cape, from a clinical as well as a laboratory perspective.
authors.affiliation: Division of Human Genetics, Department of Pathology, Institute of Infectious Diseases and Molecular Medicine, University of Cape Town; and National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa. alina.esterhuizen@uct.ac.za.
authors.forename: A I
authors.initials: AI
authors.lastname: Esterhuizen
authors.forename: L J
authors.initials: LJ
authors.lastname: Greenberg
authors.forename: R
authors.initials: R
authors.lastname: Ballo
authors.forename: R G
authors.initials: RG
authors.lastname: Goliath
authors.forename: J M
authors.initials: JM
authors.lastname: Wilmshurst
mesh_terms: D020811:Biomedical Technology; D018450:Disease Progression; D005820:Genetic Testing / Q000379:methods*; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D015994:Incidence; D008017:Life Expectancy; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy*; D013019:South Africa / Q000453:epidemiology