A Greek National Cross-Sectional Study on Myotonic Dystrophies

Abstract

Myotonic Dystrophies (DM, Dystrophia Myotonia) are autosomal dominant inherited myopathies with a high prevalence across different ethnic regions. Despite some differences, mainly due to the pattern of muscle involvement and the age of onset, both forms, DM1 and DM2, share many clinical and genetic similarities. In this study, we retrospectively analyzed the medical record files of 561 Greek patients, 434 with DM1 and 127 with DM2 diagnosed in two large academic centers between 1994–2020. The mean age at onset of symptoms was 26.2 ± 15.3 years in DM1 versus 44.4 ± 17.0 years in DM2 patients, while the delay of diagnosis was 10 and 7 years for DM1 and DM2 patients, respectively. Muscle weakness was the first symptom in both types, while myotonia was more frequent in DM1 patients. Multisystemic involvement was detected in the great majority of patients, with cataracts being one of the most common extramuscular manifestations, even in the early stages of disease expression. In conclusion, the present work, despite some limitations arising from the retrospective collection of data, is the first record of a large number of Greek patients with myotonic dystrophy and emphasizes the need for specialized neuromuscular centers that can provide genetic counseling and a multidisciplinary approach.

Progeroid dermatological manifestations in myotonic dystrophy type 1. Case report

“…Se ha demostrado que la proteostasis colapsa durante el envejecimiento y hay indicios de que esto ocurre en la DM1. (8,9) Otros estudios revelan la senescencia prematura en células de pacientes con distrofia miotónica, estos describen que las células obtenidas del músculo distal de pacientes con distrofia miotónica tipo 1 congénita, tienen una capacidad proliferativa reducida y una tasa aumentada de acortamiento de los telómeros, condicionado por mutaciones en p16. Se han reportado cambios epigenéticos dados por metilaciones en las repeticiones CTG.…”

Anti-mitochondrial antibody–mediated myopathy with cardiac involvement

“…First, the index patient could carry a sporadic mutation, and second, the disorder could have remained subclinical in phenotypically unaffected first-degree relatives. Because myopathy can be part of a multisystem disease, such as in myotonic dystrophy, 3 it is essential to know if the index patient also had manifestations in organs other than the muscle or heart.…”