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Biomarkers in Duchenne Muscular Dystrophy
Purpose of ReviewThis review highlights the key studies investigating various types of biomarkers in Duchenne muscular dystrophy (DMD).
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Myotonic dystrophy type 1 in South Korea: a comprehensive analysis of cancer and comorbidity risks
Background and purposeMyotonic dystrophy type 1 (DM1) is an inherited neuromuscular disorder characterized by myotonia and progressive muscle...
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Electroretinogram abnormalities in FKRP-related limb–girdle muscular dystrophy (LGMDR9)
BackgroundDystroglycanopathies are a heterogeneous group of membrane-related muscular dystrophies. The dystroglycanopathy phenotype includes a...
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Inherited Retinal Dystrophy and Quality of Life Questionnaire: a Sco** Review
The evaluation of the quality of life of people with severe eye disease has been an increasingly frequent practice and incorporated into traditional...
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Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report
BackgroundBest vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with...
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The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy
IntroductionDuchenne muscular dystrophy (DMD) is a genetic muscle disorder that manifests during early childhood and is ultimately fatal. Recently...
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Evaluation of Cardiac, Autonomic Functions in Ambulant Patients with Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder caused by dystrophin gene mutation resulting in muscle weakness, motor delays,...
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A mild form of POC1B-associated retinal dystrophy with relatively preserved cone system function
PurposeBiallelic variants in POC1B are rare causes of autosomal recessive cone dystrophy associated with generalized cone system dysfunction. In...
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Confirmatory validation of the french version of the Duchenne Muscular Dystrophy module of the pediatric quality of life inventory (PedsQLTM3.0DMDfv)
Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to...
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Barriers to diverse clinical trial participation in Duchenne muscular dystrophy: Engaging Hispanic/Latina caregivers and health professionals
BackgroundDespite the increasing availability of clinical trials in Duchenne muscular dystrophy, racial/ethnic minorities and other populations...
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The possible pathogenesis of macular caldera in patients with North Carolina macular dystrophy
BackgroundThis study provides a detailed description of a Chinese family with North Carolina macular dystrophy (NCMD) and explores its possible...
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A qualitative study to understand the Duchenne muscular dystrophy experience from the parent/patient perspective
BackgroundDuchenne muscular dystrophy (DMD) is a rare, severe, fatal neuromuscular disease characterized by progressive atrophy and muscle weakness,...
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A case of Duchenne muscular dystrophy recovered from prolonged ischemic kidney injury which emerged with a normal creatinine level
Duchenne muscular dystrophy (DMD) is an inherited disease characterized by progressive degeneration of the skeletal muscles. Renal dysfunction in...
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Successful treatment of acute myocardial injury of Duchenne muscular dystrophy with steroids: a case report
BackgroundDuchenne muscular dystrophy (DMD) is an X-linked muscular disease which is caused by the absence of dystrophin. Troponin elevation with...
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Use of the experience sampling method in adolescents with Duchenne muscular dystrophy: a feasibility study
Experience sampling methods (ESM) using mobile health (mHealth) technology with a smartphone application are increasingly used in clinical practice...
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Therapeutic opportunities and clinical outcome measures in Duchenne muscular dystrophy
IntroductionDuchenne muscular dystrophy (DMD) is a devastatingly severe genetic muscle disease characterized by childhood-onset muscle weakness,...
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Clinical score for early diagnosis of myotonic dystrophy type 2
IntroductionMyotonic dystrophy type 2 (DM2) is a rare, multisystemic, autosomal dominant disease with highly variable clinical presentation. DM2 is...
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Myocardial native T1 map** and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations
BackgroundFemale carriers of dystrophin gene mutations (DMD-FC) were previously considered non-manifesting, but in recent decades, cardiomyopathy...
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Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BackgroundAlthough functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’...
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UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy
PurposeWe aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 ( UBIAD1 ) gene in a Japanese family with...
