V Rakocevic-Stojanovic1, S Peric1, I Dujmovic1, J Drulovic1, J Pesovic2, D Savic-Pavicevic2. 1. Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia. 2. Center for Human Molecular Genetics, Faculty of Biology, University of Belgrade, Belgrade, Serbia.
Abstract
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs. Patient's mother had DM1 protomutation and clinically exhibited only cataract. Two proband's sisters, one with DM2 mutation and another with DM2 mutation and DM1 protomutation, had a clinical presentation similar to the index case. In addition, the latter also developed NMO. CONCLUSION: Our findings suggest that screening for both DM1 and DM2 should be done and a positive result in either gene should not be an indication to stop screening, but to move to the other gene.
INTRODUCTION: The aim of this study was to present a family co-segregating myotonic dystrophy type 1 (DM1) and 2 (DM2), and one member affected with neuromyelitis optica (NMO). CASE REPORT: Index case underwent cataract surgery at age 39. Although she had no muscle symptoms, genetic testing revealed a DM2 mutation and a DM1 protomutation. The patient noticed difficulties in climbing stairs at age 47. Clinical examination showed mild muscle weakness, calf hypertrophy, mild myotonia and several multisystem signs. Patient's mother had DM1 protomutation and clinically exhibited only cataract. Two proband's sisters, one with DM2 mutation and another with DM2 mutation and DM1 protomutation, had a clinical presentation similar to the index case. In addition, the latter also developed NMO. CONCLUSION: Our findings suggest that screening for both DM1 and DM2 should be done and a positive result in either gene should not be an indication to stop screening, but to move to the other gene.
Entities:
Keywords:
Myotonic dystrophy type 1; autoimmune diseases; myotonic dystrophy type 2; neuromyelitis optica
Authors: Stojan Peric; Jelena Zlatar; Luka Nikolic; Vukan Ivanovic; Jovan Pesovic; Ivana Petrovic Djordjevic; Svetlana Sreckovic; Dusanka Savic-Pavicevic; Giovanni Meola; Vidosava Rakocevic-Stojanovic Journal: Front Neurol Date: 2022-07-18 Impact factor: 4.086