2020/01/07 by Andrew J. Darmahkasih, A. Darmahkasih, Irina Rybalsky +8 · 2 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Muscle Physiology and Disorders #Genetic Neurodegenerative Diseases #TGF-β signaling in diseases
paper · doi:10.1002/mus.26803
INTRODUCTION: We studied neurodevelopmental and behavioral/emotional symptoms in patients with Duchenne muscular dystrophy (DMD). METHODS: Retrospective case series of neurodevelopmental and behavioral/emotional symptoms obtained through review of systems of 700 DMD patients in relation to dystrophin gene mutations. RESULTS: The most common symptoms encountered were emotional/behavioral dysregulation (38.7%), inattention/hyperactive features (31.4%), obsessive and compulsive features (25.0%), and language/speech delays (24.4%). Most patients (72.7%) had at least one symptom. Patients with mutations near the 3' end of the dystrophin gene were at higher risk for developing inattention/hyperactive features, language/speech delays, and global intellectual delays. Those with mutations between exon 31 and 79 had higher risk of clustering of symptoms when compared with those upstream of exon 30. DISCUSSION: Neurodevelopmental, emotional, and behavioral symptoms are common comorbidities in DMD. There is higher prevalence of inattention/hyperactive features, language/speech delays, and global intellectual delays in genotypes affecting the 3' end of the dystrophin gene.