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)
Abstract
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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Authors
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
m.ogundele@nhs.net
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
References
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2. Arechavala-Gomeza V, Kinali M, Feng L, Brown SC, Sewry C, Morgan JE, Muntoni F. (2010) Immunohistological intensity measurements as a tool to assess sarcolemma-associated protein expression. Neuropathol Appl Neurobiol. 36(4):265–274. Epub 25 November 2009.
3. Tunteeratum A, Witoonpanich R, Phudhichareonrat S, Eu-ahsunthornwattana J, Pingsuthiwong S, Srichan K, Sura T. (2009) Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. J Clin Neuromuscul Dis. 11(1):49–53.
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
The 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.
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