Duchenne muscular dystrophy (DMD) may share numerous clinical features with other seemingly unrelated neurodegenerative disorders, such as neurofibromatosis type 1 (NF1), according to a study recently published in PLOS One.

“It suggests that brain-related comorbidities in cognition are not only caused by gene mutations resulting in a lack of one specific protein, but also depend on other protein interactions and on neuronal and glial functional and structural alterations,” the authors wrote.

This retrospective, observational study included 76 patients, of whom 38 had a previous diagnosis of DMD and 38 had been diagnosed with NF1. All participants were male, and both groups had age-matched data. The researchers used cognitive assessments and behavioral questionnaires and evaluated numerous clinical features.

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Both groups showcased similar scores on simultaneous verbal memory, processing, and sustained attention. The DMD group had slightly lower scores on intellectual abilities and sequential processing than the NF1 group.

Regarding behavioral aspects, aggressive behavior was most prevalent in individuals with DMD, present in 13.2% of cases. Conversely, participants in the NF1 group struggled more with social behavior, reported in 10.5%.

Problems with thinking and withdrawal were also more common among patients with NF1, occurring in 15.8% and 10.5% of the cases, respectively. Importantly, parents reported a coexisting diagnosis of attention-deficit/hyperactivity disorder (ADHD) more frequently in the NF1 group.

“Clinicians should keep in mind that in both disorders one or more comorbidities may occur, that symptoms may overlap and that the severity of symptoms may variate between patients,” the study authors explained. 

These findings suggest that the assessment of cognitive and behavioral features should always occur as part of the comprehensive management of patients with these disorders. Remedial teaching, social and cognitive training, and psychoeducation for patients, parents, and teachers are potential therapeutic strategies. Central nervous system-intervening drugs may also be an option when needed, according to Hellebrekers and colleagues.


Hellebrekers DMJ, van Abeelen SAM, Catsman CE, et al. Cognitive and behavioral functioning in two neurogenetic disorders; how different are these aspects in Duchenne muscular dystrophy and neurofibromatosis type 1? PLoS One. 2022;17(10):e0275803. doi:10.1371/journal.pone.0275803