Investigating phenotypic variability patterns in myotonic dystrophy type 2 in a neuromuscular referral center retrospective cohort.

ABSTRACT: We aimed at investigating the presence of patterns that account for the phenotypic variability in a myotonic dystrophy type 2 (DM2) retrospective cohort at the Mass General Brigham Neuromuscular Centers. We collected the presence or absence of 23 clinical variables at symptom onset and diagnosis (n = 67 patients) and follow-up (n = 37 patients). We first identified set/s of variables (factors or cluster/s) representative of the large research data pool at onset by performing factor analyses, then assigned each patient to the cluster for which they had the highest computed total factor score. Twelve variables grouped into two distinct clusters that, based on their variable content, we named as proximal myotonic myopathy (PROMM)-DM2 or non-PROMM-DM2. Patients assigned to non-PROMM-DM2 more f

SUBMITTER: Picher-Martel V 

PROVIDER: S-EPMC11908914 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature