Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center.

ABSTRACT: The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy.

Methods

A retrospective observational cohort study was undertaken. Thirty-three patients with genetic diagnosis of DM1 were followed at our Neuromuscular unit in Modena. Abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite for inclusion. The number of CTG repeats was determined. All the participants were older than 14 at the time of enrolment, therefore they could be included into the juvenile or adult form of the disease. Participants were neurologically evaluated ever

SUBMITTER: Mazzoli M 

PROVIDER: S-EPMC7711325 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature