The current clinical perception of myotonic dystrophy type 2

Area of Science:

• Neurology
• Genetics
• Internal Medicine

Background:

• Myotonic dystrophy type 2 (DM2) is a multisystemic genetic disorder.
• Characterized by muscle weakness, myalgia, and potential involvement of other organs.

Approach:

• This review provides an updated overview of DM2 research.
• Focuses on managing multisystemic involvement and atypical phenotypes.

Key Points:

• Early and severe cardiac involvement is noted in DM2.
• Diabetes is more prevalent in DM2 than DM1.
• Autoimmune diseases affect up to one-third of DM2 patients.
• A childhood-onset phenotype with foot deformities is emerging.
• Clinical suspicion can be raised by cataracts, myotonia, and tremor.

Conclusions:

• Multisystemic DM2 necessitates a multidisciplinary approach.
• Advanced cardiac and brain imaging aid early complication detection.
• Evidence suggests a possible pediatric DM2 phenotype and anticipation.
• Further research with larger cohorts is needed for early-onset variants.