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Session


Keywords: Muscular abnormalities; Myotonic dystrophies; Characterization of disorders; Massively parallel sequencing; Risk assessment

Authors:
V. Espin

Affiliation: Genetics, Hospital Carlos Andrade Marin, Quito, Pichincha, Ecuador


The study and analysis of neuro-muscular problems is a very complex task. There are many difficulties to get a precise diagnosis because clinical presentations are quite similar among these diseases. In many cases this has capital importance in order to be able to establish the natural history of the disease, recurrence risk and sometimesto take choices of reproductive medicine.
Molecular technology has made the diagnostic approach easier.
We analyzed 27 patients who presented with neuromuscular symptoms at the Genetics Service of the Hospital Carlos Andrade Marín (Quito) between in 2017-2018.
An NGS panel of 123 genes was used, finding a conclusive diagnosis in 16 patients (Detection rate 59.25%). If the probable ones (Variable Unknown Significance VUS)
are added, the diagnosis rate would reaches 88.8%.
Ecuador is not a wealthy country. The option of applying this technology to patients with suspected hereditary neuromuscular disorder becomes a feasible and accessible
option to reach diagnosis in a large number of these cases.