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DC Field | Value | Language |
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dc.contributor.author | Grech, Neil | |
dc.contributor.author | Degiorgio, Sophie | |
dc.contributor.editor | Aquilina, Josianne | |
dc.date.accessioned | 2016-04-28T12:13:05Z | |
dc.date.available | 2016-04-28T12:13:05Z | |
dc.date.issued | 2016 | |
dc.identifier.citation | Minima Medicamenta. 2016, (5), p. 16-19 | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/10140 | |
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. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | MMSA | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Muscular dystrophy -- Malta -- Case studies | en_GB |
dc.subject | Rare diseases -- Malta -- Case studies | en_GB |
dc.subject | Becker muscular dystrophy -- Malta -- Case studies | en_GB |
dc.title | Becker’s Muscular Dystrophy : case report | en_GB |
dc.type | article | en_GB |
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. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
Appears in Collections: | Minima Medicamenta 2016 Minima Medicamenta 2016 |
Files in This Item:
File | Description | Size | Format | |
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Becker’s muscular dystrophy.pdf | 317.58 kB | Adobe PDF | View/Open |
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