Resumo

CASTRO-R, Diana; RAMIREZ-C, Julián; SALDARRIAGA, Wilmar  e  ISAZA, Carolina. MYOTONIC DYSTROPHY TYPE 1: CASE REPORT OF A COLOMBIAN PATIENT. Biosalud [online]. 2016, vol.15, n.2, pp.119-125. ISSN 1657-9550.  https://doi.org/10.17151/biosa.2016.15.2.11.

Introduction: Myotonic dystrophy (MD) is a rare genetic disease. It is produced by an increased repetition of the CTG triplet in the DMPK gene (locus 19q13.32), or by increasing repetitions of CCTG in the ZNF9 gene (locus 3q21.3). Its phenotype is variable, and its key features are progressive muscle weakness and myotonia. The aim of this publication is to report a Colombian case of myotonic dystrophy type 1 with molecular diagnosis and to contribute to the construction of local epidemiological data on this pathology. Also, to provide information to general practitioners, pediatricians, internists, physiatrists, neurologists, and health personnel who may have contact with patients with progressive muscle weakness, scenario in which myotonic dystrophy is a diagnostic possibility to be considered. Case description: Thirty-seven year old male with a history of poor neonatal suction, delay in developmental milestones, intellectual disability and, in adolescence, the onset of progressive generalized weakness, myotonia and dysphagia. Southern blot and PCR of DMPK gene showed one expanded allele in a range between 1100-1700 repetitions of the CGT triplet and one normal allele, confirming the diagnosis of myotonic dystrophy type 1. Conclusion: The patient reported here presented a phenotype suggestive of myotonic dystrophy type 1; the diagnosis was confirmed by molecular testing. This result made it possible to offer a proper genetic counseling and provide information about the disease.

Palavras-chave : Myotonic dystrophy; congenital genetic diseases; trinucleotide repeat expansion; rare diseases; genetic testing.

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