Cognitive assessment in patients with myotonic dystrophy type 2

Area of Science:

• Neurology
• Genetics
• Cognitive Science

Background:

• Myotonic dystrophy type 2 (DM2) is a multisystemic, autosomal dominant disorder.
• Previous research on small cohorts suggested cognitive dysfunction in DM2 patients.
• A comprehensive assessment of cognitive functions in a larger DM2 cohort was needed.

Purpose of the Study:

• To evaluate cognitive functions in a larger cohort of Serbian patients with DM2.
• To identify the prevalence and characteristics of cognitive impairment in DM2.
• To correlate cognitive deficits with clinical and demographic factors.

Main Methods:

• Inclusion of 76 genetically confirmed DM2 patients.
• Utilized an extensive battery of neuropsychological tests covering multiple cognitive domains.
• Assessed general intellectual level, attention, executive functions, visuospatial abilities, memory, and language.

Main Results:

• Only 6% scored below average in general intellectual level.
• Cognitive deficits detected in 5.5% (MMSE) and 25.8% (ACE-R) of patients.
• 35.3% (24 patients) exhibited cognitive impairment (≥2 SD in ≥2 domains).
• Approximately 25% of DM2 patients had significant cognitive impairment affecting daily functioning.

Conclusions:

• A substantial proportion of DM2 patients experience significant cognitive impairment.
• Cognitive deficits in DM2 can impact everyday life.
• Older age at testing/onset, lower education, and greater muscle weakness are associated with cognitive impairment in DM2.