Myotonia and myotonic discharges of dystrophic myotonia type 1 at the first decade onset: a literature review and data of the case series

Background. Dystrophic myotonia type 1 (DM1) is the most common muscular dystrophy in patients of any age. Myotonia “delayed relaxation muscle” leading symptom DM1 and can occur at time after onset disease. symptoms electrical registration are delayed with congenital infantile forms DM1. This makes it difficult to diagnose prevent fatal complications these a timely manner. Objective: presentation clinical data results needle electromyography first decade life; determination disease, estimate age manifestation for optimization diagnostics disease.Materials methods. 13 aged from 2 months 34 years were described. 10 underwent analysis spontaneous activity EMG pattern. The diagnosis was made on basis paraclinical manifestations disease identification an increase CTG repeats (>50) DMPK gene.Results. extramuscular signs respiratory and/or feeding disturbances, dysarthria, school learning disorders, autism spectrum disturbance “floppy infant syndrome” noted as Clinical absent all long onset. confirmed mothers, however 5 cases later than childhood DM1.Conclusion. not specific wide range diseases. Such discriminating myotonia, distal muscle atrophy appear much In group before formation phrasal speech, presented combinations allow its turn, allows genetic counseling burdened families prevention complications.