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Title: Becker’s Muscular Dystrophy : case report
Authors: Grech, Neil
Degiorgio, Sophie
Keywords: Muscular dystrophy -- Malta -- Case studies
Rare diseases -- Malta -- Case studies
Becker muscular dystrophy -- Malta -- Case studies
Issue Date: 2016
Publisher: MMSA
Citation: Minima Medicamenta. 2016, (5), p. 16-19
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.
Appears in Collections:Minima Medicamenta 2016
Minima Medicamenta 2016

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