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Myotonic Dystrophy Type 1 Associating Sensitive Polyneuropathy: a Case Report

Elena Florentina MARINGICA, 2nd Compartment of Neurology, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania, Oana Elisabeta MORARI, Claudiu Gabriel SOCOLIUC, Alexandra Eugenia BASTIAN, Bogdan Ovidiu POPESCU, 2nd Compartment of Neurology, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania, Clinic of Pathology, Colentina Clinical Hospital, Bucharest, Romania, Clinic of Pathology, Colentina Clinical Hospital, Bucharest, Romania, 6th Department of Clinical Neuroscience, Clinic of Neurology, Colentina Clinical Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania
2020 Modern Medicine  

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Myotonic dystrophy (DM) type 1 is a genetic disorder, caused by a trinucleotide CTG repeat expansion in the DMPK gene on chromosome 19. The skeletal muscle is the most severely affected organ, patients clinically presenting weakness and myotonia. Additionally, it may affect other organs, transforming it into a multisystemic disease. The pathophysiological mechanism involves RNA toxicity resulting from the expanded repeat in the mutant DM alleles. Phenotypes of DM1 may be classifi ed as
more » ... l, juvenile, classical or late onset. Case Report: We present the case of a 36-year-old male diagnosed with chronic hepatitis B virus infection 4 years ago, admitted to the Neurology Department for progressive weakness of the distal lower limbs and multiple falls without loss of consciousness due to muscle weakness. Considering the clinical evolution, neurological examination and paraclinical investigations, the patient was diagnosed with myotonic dystrophy type 1 and mild sensitive axonal polyneuropathy of the lower limbs. Conclusion: The diagnosis of DM can be established clinically if the patient has typical manifestations and positive family history. Genetic testing for CTG repeat expansion in the DMPK gene is the gold standard in diagnosing DM1. There is no disease-modifying therapy available for DM yet and management is only symptomatic. Introducere: Distrofi a miotonică (DM) tip 1 este o boală genetică, cauzată de expansiunea repetiţiilor trinucleotidice pe gena DMPK -cromozomul 19. Mușchii scheletici sunt cel mai frecvent afectaţi, pacienţii prezentând scăderea forţei musculare și miotonie. În plus, pot fi afectate și alte organe, boala fi ind considerată multisistemică. Mecanismul fi ziopatologic implică toxicitatea ARN-ului rezultat din expansiunea repetiţiilor transcriptului alelelor DM mutante. Fenotipurile DM1 pot fi clasifi cate: congenital, juvenil, clasic sau cu debut tardiv. Prezentare de caz: Raportăm cazul unui pacient în vârstă de 36 ani, diagnosticat cu infecţie cu virus hepatitic B în urmă cu 4 ani, internat pe Secţia de Neurologie pentru scădere de forţă musculară progresivă la nivelul membrelor inferioare distal și multiple episoade de cădere fără pierderea stării de conștienţă, din cauza defi citului motor. Având în vedere evoluţia clinică, examenul neurologic și rezultatele investigaţiilor paraclinice, pacientul a fost diagnosticat cu distrofi e miotonică tip
doi:10.31689/rmm.2020.27.1.47 fatcat:thzoal4lnrchfp7xvgz6dxpft4
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Elena Florentina MARINGICA, 2nd Compartment of Neurology, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania, Oana Elisabeta MORARI, Claudiu Gabriel SOCOLIUC, Alexandra Eugenia BASTIAN, Bogdan Ovidiu POPESCU, 2nd Compartment of Neurology, Clinic of Neurology, Colentina Clinical Hospital, Bucharest, Romania, Clinic of Pathology, Colentina Clinical Hospital, Bucharest, Romania, Clinic of Pathology, Colentina Clinical Hospital, Bucharest, Romania, 6th Department of Clinical Neuroscience, Clinic of Neurology, Colentina Clinical Hospital, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania. "Myotonic Dystrophy Type 1 Associating Sensitive Polyneuropathy: a Case Report." Modern Medicine 27.1 (2020) 47-53