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2021, Number 3

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Correo Científico Médico 2021; 25 (3)

Clinical, genetic and electrophysiological characterization of Duchenne/Becker muscular dystrophy in Holguín: 2017 - 2019

Rodríguez PJM, Sánchez LL, Ochoa SD, Rojas RY, Cruz AY

Language: Spanish
References: 18
Page:
PDF size: 703.83 Kb.


ABSTRACT

Introduction: Duchenne and Becker muscular dystrophy is a group of rare, genetic and progressive muscular dystrophies. These diseases represent a spectrum of severity, ranging from Duchenne muscular dystrophy at the severe end to Becker muscular dystrophy at the mild end.
Objective: To characterize the main clinical, genetic and electrophysiological aspects of D/BMD.
Methods: A descriptive observational study of a series of cases in 12 patients with this diagnosis, who went to the Neurogenetic consultation of the Provincial Genetic Center in Holguín province, Cuba, from September 2017 to September 2019.
Results: From these patients, 41.7% lived in the municipality of Holguín. At the time of diagnosis 83.3% presented Gowers' sign. In 25% of the cases other relatives were found with the disease; 100% showed elevated serum creatine phosphokinase and aspartate aminotransferase levels, and in the same percentage, a myopathic pattern was identified in the electromyographic study. Deletions in exons 8, 12, 13 and 50 of the DMD gene were detected in 33.3%.
Conclusions: Most of the patients came from the head municipality of Holguín with motor clinical manifestations. A quarter of them showed family history of the disease. Most of the enzymatic and electromyographic studies were altered. In only one third of the cases, it was possible to detect a deletion in the gene studied. Knowledge of the specific characteristics of the disease in the province is of vital importance for the design of preventive strategies.


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