Cognitive and personality function in myotonic muscular dystrophy

Area of Science:

• Neurology
• Genetics
• Psychology

Background:

• Myotonic dystrophy (DM) is a multisystem disorder with variable clinical presentation.
• Cognitive and personality changes are reported in DM, but their patterns and correlations require further investigation.

Purpose of the Study:

• To assess cognitive function and personality profiles in patients with myotonic dystrophy.
• To explore correlations between cognitive abilities, personality, genetic inheritance, and physical handicap.

Main Methods:

• Cognitive function was evaluated using Wechsler and Shipley measures in 29 DM patients from 14 families.
• Personality profiles were assessed using interview and MMPI techniques in 25 DM patients.
• CT scans were used to evaluate for cerebral atrophy in a subset of patients.

Main Results:

• Approximately one-third of patients had low Wechsler scores, while 7% had high scores; affected females trended towards poorer cognitive function.
• Limited cognitive ability correlated with maternal inheritance and severe physical handicap.
• Verbal and informational abilities were strongest, while immediate recall, abstraction, and spatial skills were weakest; no intellectual decline over time was observed.
• Prominent personality abnormalities were present in 32% of subjects, more common in those with low cognitive ability and advanced physical handicap.

Conclusions:

• Cognitive function in myotonic dystrophy is heterogeneous, with specific patterns of strengths and weaknesses.
• Personality difficulties are frequent in myotonic dystrophy and appear related to the burden of the disease.
• The findings suggest that coping mechanisms for the physical and cognitive challenges of myotonic dystrophy significantly impact personality.