Clinical score for early diagnosis of myotonic dystrophy type 2.

ABSTRACT:

Introduction

Myotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is considered to be highly underdiagnosed.

Objective

The aim of this study was to determine which symptoms, signs, and diagnostic findings in patients referred to neurological outpatient units are the most indicative to arouse suspicion of DM2. We tried to make a useful and easy-to-administer clinical scoring system for early diagnosis of DM2-DM2 early diagnosis score (DM2-EDS).

Patients and methods

Two hundred ninety-one patients with a clinical suspicion of DM2 were included: 69 were genetically confirmed to have DM2, and 222 patients were DM2 negative. Relevant history, neurological, and paraclinical data were obtained fr

SUBMITTER: Ivanovic V 

PROVIDER: S-EPMC9925479 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature