Quintana-Vega VJ, Barragán-Pérez EJ, Alarcón-De la Luz EM, Alarcón-Cabrera E, Sadowinski-Pine S, Aguirre-Hernández J

Language: Spanish
References: 12
Page: 353-357
PDF size: 288.44 Kb.

ABSTRACT

Introduction: During the last two decades, advances in molecular analysis techniques, as well as in gene therapy, have generated changes in the way neuromuscular diseases are approached. Congenital myopathies (CM) are a clinically and genetically heterogeneous group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning.
Case: We present the case of a female patient 9 years and 3 months, with orthopedic alterations since she was 2 months old, hip dysplasia, clubfoot, thoracolumbar kyphoscoliosis with genetic study with mutation of the RYR1 gene, compatible with central core myopathy.
Conclusions: The early diagnosis of this pathology allows to improve the quality of life of the patient, as well as an adequate genetic advice to the parents. The objective of the description is to know the main diagnostic manifestations and how to carry out a diagnostic approach.

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