Distrofias musculares, miopatías metabólicas y tóxicas

Abstract

Muscular dystrophies are genetically determined conditions that manifest with progressive muscular weakness and show dystrophic features in the muscle biopsy. It is important to reach a genetic diagnosis when possible due to implications in the management, prevention of complications, genetic counselling and treatment. Next generation sequencing has provided a valuable tool for genetic diagnosis which is becoming otherwise challenging, time-consuming and expensive when based on traditional methods, due to the increasing number of entities described. Metabolic myopathies are caused by abnormalities in the utilization of energy by skeletal muscle. They can manifest as a fixed myopathy with progressive weakness or only with transient symptoms during high energy-demanding situations, such as exercise. Biochemical determinations in muscle, blood or urine may be useful but the definitive diagnosis is usually genetic.