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Optical Coherence Tomography-Based Choroidal Structural Analysis and Vascularity Index in Best Vitelliform Macular Dystrophy
IntroductionThis study investigated choroidal structural changes on optical coherence tomography (OCT) using choroidal vascularity index (CVI) and...
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Left ventricular concentric hypertrophy with cardiac magnetic resonance imaging improves risk stratification in patients with Duchenne muscular dystrophy: a prospective cohort study
BackgroundThe development of left ventricular (LV) remodeling has been associated with an increased cardiovascular risk and cardiogenic death, and...
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Different bone health progression patterns and early-stage risk marker in glucocorticoid-treated ambulatory Duchenne muscular dystrophy
SummaryFractures often cause irreversible harm in Duchenne muscular dystrophy (DMD). This study investigated the trajectory of bone mineral density...
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Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy
Background and objectivesOculopharyngodistal myopathy (OPDM) is an autosomal dominant myopathy clinically characterized by distal muscle weakness....
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Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
BackgroundEmery-Dreifuss Muscular Dystrophy (EDMD) is an uncommon genetic disease among the group of muscular dystrophies. EDMD is clinically...
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Exploring the relationship between North Star Ambulatory Assessment and Health Utilities Index scores in Duchenne muscular dystrophy
BackgroundThe North Star Ambulatory Assessment (NSAA) documents motor performance in ambulatory individuals with Duchenne muscular dystrophy (DMD)....
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The relationship between lower urinary system symptoms and the level of independence and quality of life in children with Duchenne muscular dystrophy
BackgroundThe purpose was to investigate the frequency of lower urinary tract symptoms (LUTS) and lower urinary tract dysfunction (LUTD) in Duchenne...
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Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report
IntroductionUllrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered...
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Targeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti’s crystalline dystrophy
PurposeAbnormalities in lipid metabolism have been proposed in Bietti’s crystalline dystrophy (BCD). We aim to characterize the lipid profiles in a...
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Insomnia and sleep-disordered breathing in FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)
Limb-girdle muscular dystrophy R9 (LGMDR9) is a progressive and disabling genetic muscle disease. Sleep is relevant in the patient care as it impacts...
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Longitudinal changes in magnetic resonance imaging biomarkers of the gluteal muscle groups and functional ability in Duchenne muscular dystrophy: a 12-month cohort study
BackgroundQuantitative magnetic resonance imaging (MRI) is considered an objective biomarker of Duchenne muscular dystrophy (DMD), but the...
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Fundus flavimaculatus-like in myotonic dystrophy: a case report
BackgroundMyotonic dystrophy is an inherited disease characterized by progressive muscle weakness and myotonia. It is a multisystemic disorder that...
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Defining clinical endpoints in limb girdle muscular dystrophy: a GRASP-LGMD study
BackgroundThe Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result...
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Left Atrial Phasic Function via Cardiac Magnetic Resonance Imaging in Patients with Duchenne Muscular Dystrophy
Cardiac dysfunction is a leading cause of morbidity and mortality in Duchenne muscular dystrophy (DMD). Left atrial (LA) function is a poorly...
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“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy
IntroductionStudies have reported health-related quality-of-life impacts of Duchenne muscular dystrophy (DMD); however, further research is needed to...
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Cognitive and neurobehavioral patterns in a sample of Egyptian patients genetically diagnosed with Duchenne muscular dystrophy
BackgroundChildren with Duchenne muscular dystrophy report a higher rate of cognitive and psychiatric disorders relative to general population. This...
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12-year follow-up of the first endothelial keratoplasty without Descemet strip** in a 3-month newborn with Congenital Hereditary Endothelial Dystrophy (CHED)
BackgroundEndothelial Keratoplasty (EK) is now considered as the standard treatment for Congenital Hereditary Endothelial Dystrophy (CHED) by many...
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Respiratory comorbidities and treatments in Duchenne muscular dystrophy: impact on life expectancy and causes of death
BackgroundDuchenne muscular dystrophy (DMD) is a neuromuscular disorder with progressive decline of pulmonary function increasing the risk of early...
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Comparison of quantitative muscle ultrasound and whole-body muscle MRI in facioscapulohumeral muscular dystrophy type 1 patients
IntroductionMuscle ultrasound is a fast, non-invasive and cost-effective examination that can identify structural muscular changes by assessing...
