Molecular diagnosis of neuromuscular diseases at the Instituto Nacional de Rehabilitación (National Institute of Rehabilitation), current situation and prospects
Keywords:
Neuromuscular disorders, muscular dystrophies, myotonic dystrophy, dysferlinopathies, spinocerebellar ataxia, spinal muscular atrophyAbstract
In Mexico, around six million people have some kind of disability, of which neuromuscular diseases remain one of the most common causes of inability and death. Neuromuscular disorders are rare conditions that affect the muscles, the neuromuscular junction, the periph- eral motor nerves and the motor neurons. Their clinical and genetic variability impact in an effective diagnosis; therefore, many cases are identified belatedly or not diagnosed at all, due to lack economic resources or the absence of specialized study centers for neuromuscular diseases. In this article, we offer a general description of the most frequent neuromuscular
diseases in our population, as well as the results obtained following the implementation of molecular diagnosis three years ago in the National Rehabilitation Institute (INR). We confirmed the molecular diagnosis in 636 patients, who received the benefit of a more appropriate treatment, specific to each disease, and genetic counseling, psychological monitoring and an effective social inclusion program. In the final part of this manuscript, we discuss the advances and perspectives of the development of molecular diagnosis of other neuromuscular diseases in INR.
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