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.
Introduction: Becker muscular dystrophy (BMD) results in decreased dystrophin with implications for mental health.Methods: This is a retrospective case series of neurodevelopmental, behavioral, and emotional symptoms and respective pharmacotherapies of 70 patients with BMD.Results: Fifty-four (77.1%) patients exhibited at least one symptom, and 19 (27.1%) patients exhibited four or more symptoms. The most prevalent symptoms were specific learning disabilities or special education needs (31.4%), inattention/hyperactivity (35.7%), language/speech delays (35.7%), and emotional or behavioral dysregulation (38.6%). Fisher's exact tests indicated that anxiety was more prevalent with mutations upstream of exon 30 (P = .049), but the prevalence of other symptoms did not differ with respect to mutation sites. Similarly, the number of symptoms individual patients with BMD exhibited did not differ with respect to mutation sites. Seventeen (24.3%) patients required pharmacotherapy to manage symptoms.Discussion: Neurodevelopmental, behavioral, and emotional symptoms are prevalent in patients with BMD regardless of dystrophin gene mutation site. K E Y W O R D S Becker muscular dystrophy, behavioral, cognitive impairment, dystrophin, emotional, fluoxetine, genetics, learning disabilities, neurodevelopmental, pharmacotherapy 1 | INTRODUCTION Becker muscular dystrophy (BMD), the milder allelic variant of Duchenne muscular dystrophy (DMD), is the result of mutations of the dystrophin gene on the X-chromosome. 1 It falls along a spectrum of dystrophinopathies that range from the severe and fatal DMD, with loss of walking by age 13, to the milder BMD phenotypes, with ambulation into the adult years. 2 Phenotypic variations are well explained by the reading frame hypothesis, which posits that in-frame mutations maintaining the dystrophin gene's reading frame and resulting in partially functioning dystrophin proteins yield phenotypes indicative of BMD, whereas DMD stems from out-offrame mutations distorting the reading frame and resulting in paucity or absence of dystrophin protein. 3 However, exceptions do exist; point mutations and nonsense mutations are typically associated with DMD but may also be found in patients with BMD. 4 As dystrophinopathies exist on a spectrum, so too do discrete diagnoses. Becker MD subtypes include a severe presentation resulting in Abbreviations: BMD, Becker muscular dystrophy; CPK, creatine phosphokinase; DMD, Duchenne muscular dystrophy; GC, glucocorticoid therapy; IRB, institutional review board. would ideally be followed for a number of years to verify that their clinical course paralleled the expected course of BMD. To comment on inheritance of neurodevelopmental, behavioral, and emotional symptoms, it may also have been useful to report the percentage of patients with family histories of mental health symptoms on their maternal side, paternal side, or both. However, these data were not available during the course of this study. Cognitive dysfunction may be a presenting symptom of patients with BMD...
Introduction/Aims: Management of Duchenne muscular dystrophy (DMD) has entered an era featuring novel treatments. Trackable noninvasive biomarkers could improve disease progression monitoring and drug effect detection. Our aim in this study was to measure changes in selected noninvasive biomarkers and assess their relationship to age and motor function.Methods: We retrospectively studied 555 patients with DMD who had at least 12 months of treatment of glucocorticoids and were not enrolled in trials of potential disease-modifying therapies. We extracted biomarker data of serum creatine kinase (CK), serum creatinine (Cr), urine Cr, and urine Cr/urine osmolality (osm), as well as functional data for age at loss of ambulation and Functional Motor Scale (FMS) values from patients' clinical records. Data were analyzed using linear mixed-model analyses.Results: CK, serum Cr, urine Cr, and urine Cr/urine osm all decreased with declining motor function. CK consistently decreased and FMS score consistently worsened with age without clear inflection points. There was an increased odds ratio for LOA with lower values of CK, serum Cr, urine Cr, and urine Cr/urine osm, most notably for urine Cr.
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