Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations.

ABSTRACT:

Objective

To study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study.

Methods

We performed a prospective cohort study on the clinical features and progression over time of 33 patients with DM1 and pronounced, mostly asymmetric scapular winging or other forms of scapular dyskinesis. We also explored if scapular dyskinesis in DM1 has the same genetic background as in facioscapulohumeral muscular dystrophy type 1 (FSHD1).

Results

The cohort included patients with congenital (n = 3), infantile (n = 6) and adult-onset DM1 (n = 24). Scapular girdle examination sho

SUBMITTER: Voermans NC 

PROVIDER: S-EPMC6851043 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature