University of Malta

Show simple item record Grech, Neil Degiorgio, Sophie
dc.contributor.editor Aquilina, Josianne 2016-04-28T12:13:05Z 2016-04-28T12:13:05Z 2016
dc.identifier.citation Minima Medicamenta. 2016, (5), p. 16-19
dc.description.abstract Case report regarding a 23 year old gentleman, presented with difficulty climbing stairs, changes in posture and toe walking. Significant calf hypertrophy was seen on examination. A muscular dystrophy was the probable diagnosis and to confirm, this various investigations were carried out, including: genetic testing, electromyography (EMG), and creatinine kinase (CK) levels. The doctors’ suspicions were confirmed and the patient was diagnosed with a de novo mutation of Becker’s Muscular Dystrophy (BMD). A cardiac work up followed to assess for dilated cardiomyopathy which is associated with BMD, although Mr. K.B. was still asymptomatic. BMD is a very rare disease with an incidence in males as low as 1 in 30,000 people. The prevalence in females is extremely low, as BMD is an X linked disorder. Apart from this, Mr. K.B’s case is particularly more rare due to the fact that genetic studies have shown a de novo mutation, furthermore no other family member is affected by the disease, nor is a carrier. Under Dr. Aquilina’s care, only one other family has been reported in Malta.
dc.language.iso en
dc.publisher MMSA
dc.rights info:eu-repo/semantics/openAccess
dc.subject Muscular dystrophy -- Malta -- Case studies
dc.subject Rare diseases -- Malta -- Case studies
dc.subject Becker muscular dystrophy -- Malta -- Case studies
dc.title Becker’s Muscular Dystrophy : case report
dc.type article
dc.rights.holder The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.
dc.description.reviewed peer-reviewed

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