Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

Antonella Taglia 1 , Roberta Petillo 1 , Paola D’Ambrosio 1 , Esther Picillo 1 , Annalaura Torella 2 , Chiara Orsini 1 , Manuela Ergoli 1 , Marianna Scutifero 1 , Luigia Passamano 1 , Alberto Palladino 1 , Gerardo Nigro 3 , Luisa Politano 1

1 Cardiomiology and Medical Genetics, Department of Experimental Medicine; 2 Laboratory of Medical Genetics, Department of Biochemistry, Biophysics and General Pathology; 3 Arrhythmologic Unit, Department of Cardio-Respiratory Sciences, Second University of Naples, Italy

Becker muscular dystrophy (BMD) was first described in 1953 by Emile Becker as a benign variant of Duchenne muscular Dystrophy (DMD). Compared with DMD, BMD is clinically more heterogeneous, with initial presentation in the teenage years and loss of ambulation beyond the age of 16 and a wide spectrum of clinical presentations, ranging from only myalgias and muscle cramps to exercise intolerance and myoglobinuria, asymptomatic elevation of serum creatin-kinase, or mild limb-girdle weakness and quadriceps myopathy. About 50% of patients become symptomatic by the age of 10 and the most part by the age of 20 years. However few patients can be free of symptoms till their fifties and cases of late-onset Becker Muscular Dystrophy have also been described.

In this report we describe the clinical features of patients with dystrophinopathy sharing a deletion of exons 45-55, occasionally or retrospectively diagnosed. These data are important for both the prognostic aspects of children presenting this dystrophin gene mutation, and for the genetic counseling in these families (reassuring them on the benign course of the disease), and last but not least to keep in mind a diagnosis of BMD in asymptomatic adults with mild hyperckemia.

Scarica il PDF