Clinical Case Database / Category: Patient Management

Manifesting carrier for Becker Muscle dystrophy

Publication details

Michael O Ogundele MB, BS, MSc, DTCH, MRCPCH, Stefan Spinty State Exam Med, FRCPCH, Hani F AyyashPhD, MMedSci, MB, BS, PGDPsych, FRCPCH
Foundation Years Journal, volume 4, issue 10, p.50 (123Doc Education, London, January 2011)


This is a case summary based on an adolescent presenting at the age of 10 years with an inherited neuromuscular disease manifesting as scoliosis. The report highlights her clinical history, examination, investigations, complications and multidisciplinary management. It emphasises a holistic family-centred approach to care of chronic paediatric disabilities.

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Michael O Ogundele MB, BS, MSc, DTCH, MRCPCH

Dept of Community Paediatrics
Alder Hey Children's Hospital NHS Foundation Trust
Eaton Road
Liverpool L12 2AP

Stefan Spinty State Exam Med, FRCPCH

Dept of Paediatric Neurology
Alder Hey Children's Hospital NHS Foundation Trust
Eaton Road
Liverpool L12 2AP

Hani F AyyashPhD, MMedSci, MB, BS, PGDPsych, FRCPCH

Dept of Paediatrics
Doncaster and Bassetlaw NHS Foundation Trust
Doncaster DN2 5LT


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4. Fanin M, Melacini P, Angelini C, Danieli GA. (1999) Could utrophin rescue the myocardium of patients with dystrophin gene mutations? J Mol Cell Cardiol. 31(8):1501–1508.
5. Sumita DR, Vainzof M, Campiotto S, Cerqueira AM, Cánovas M, Otto PA, Passos-Bueno MR, Zatz M. (1998) Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet. 80(4):356–361.


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About the Clinical Cases Database

T​he Foundation Years Clinical Cases Database is​ a selection of 600 peer-reviewed clinical cases in the field of patient safety and clinical practice, specifically focused on the clinical information needs of junior doctors, based around the Foundation Year Curriculum programme (MMC). The cases have been chosen to align with the Foundation Year Curriculum.

The database is fully searchable, or can be browsed by medical specialty. Abstracts can be read free of charge, however a subscription is required in order to read the complete cases.