While women with DMD gene defects are most often asymptomatic, a Brazilian study shows that they sometimes present impairment in several cognitive domains, as well as structural lesions in certain brain regions.
- The study included 33 women with DMD gene defects and 33 healthy women matched for age, sex and education. All underwent 3T brain MRI.
- With regard to cognition, 48.5% of patients had an ACE-R (Addenbrooke Cognitive Examination revised) score below that expected for their educational level.
- 15% had significant depressive symptoms, assessed using the Beck Depression Inventory (BDI).
- Performance in other cognitive domains was impaired: attention (51.5% of patients), verbal fluency (36.4%), memory (21.2%), language (27.3%) and visuospatial abilities (36.4%).
- Multimodal MRI revealed bilateral, symmetrical atrophy of the parieto-occipital cortex in all patients.
- No changes were observed in the basal ganglia, white matter or cerebellum.
- The change observed in the parieto-occipital cortex was correlated with attention, memory and verbal fluency scores.
This study suggests that the complaints of female carriers should be linked to these findings. A neuropsychological assessment would help to objectivize the difficulties and adjust the management of these patients.
