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Nationwide epidemiologic survey on incidence of macular dystrophy in Japan
PurposeThe aim of this study was to estimate the number of patients in Japan who had visited an ophthalmologist for macular dystrophy of various...
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Spontaneous Diaphragmatic Rupture in Muscular Dystrophy Misdiagnosed as Pneumothorax: a Case Report
Diaphragmatic rupture is almost always iatrogenic with variable presentation. It should be diagnosed with high suspicion index in blunt thoracic...
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Fuchs endothelial corneal dystrophy: an updated review
PurposeThe present review will summarize FECD-associated genes and pathophysiology, diagnosis, current therapeutic approaches, and future treatment...
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AChR-seropositive myasthenia gravis in muscular dystrophy: diagnostic pitfalls and clinical management challenges
The co-occurrence of genetic myopathies with myasthenia gravis (MG) is extremely rare, however a few studies have been reported. We aim to explore...
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Greater cortical thinning and microstructural integrity loss in myotonic dystrophy type 1 compared to myotonic dystrophy type 2
BackgroundMyotonic dystrophy is a multisystem disorder characterized by widespread organic involvement including central nervous system symptoms....
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Social difficulties and care burden of adult Duchenne muscular dystrophy in Japan: a questionnaire survey based on the Japanese Registry of Muscular Dystrophy (Remudy)
BackgroundLittle is known about the social difficulties and health care needs of adult Duchenne muscular dystrophy (DMD) patients in Japan, as well...
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Cognitive abnormalities in Becker muscular dystrophy: a mysterious link between dystrophin deficiency and executive functions
BackgroundDistrophinopathies are a heterogeneous group of neuromuscular disorders due to mutations in the DMD gene. Different isoforms of dystrophin...
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Early versus late diagnosis of LAMA2 congenital muscular dystrophy: a distinct consequence
BackgroundLaminin subunit alpha 2 ( LAMA2 )-related muscular dystrophy ( LAMA2 MD) is caused by homozygous or compound heterozygous mutations in LAMA2 ...
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An early onset cone dystrophy due to CEP290 mutation: a case report
PurposeBiallelic mutations in the CEP290 gene cause early onset retinal dystrophy or syndromic disease such as Senior-Loken or Joubert syndrome....
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Diagnosis and management of Becker muscular dystrophy: the French guidelines
Becker muscular dystrophy (BMD) is one of the most frequent among neuromuscular diseases, affecting approximately 1 in 18,000 male births. It is...
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Tamoxifen may contribute to preserve cardiac function in Duchenne muscular dystrophy
Duchenne muscular dystrophy is life-limiting. Cardiomyopathy, which mostly ensues in the second decade of life, is the main cause of death. Treatment...
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Classic lattice corneal dystrophy: a brief review and summary of treatment modalities
PurposeTo provide a brief summary and comparison of the most recent literature on available and theorized treatment modalities for classic lattice...
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Afterdischarges in myotonic dystrophy type 1
ObjectiveElectrodiagnostic testing is an important screening test for myotonic dystrophy type 1 (DM1). Although myotonic discharges are observed on...
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Multi-level profiling unravels mitochondrial dysfunction in myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is an autosomal-dominant multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy,...
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Duchenne muscular dystrophy: pathogenesis and promising therapies
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease, characterized by progressive deterioration of skeletal muscle...
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Myotonic dystrophy type 1 in the COVID-19 era
IntroductionMyotonic dystrophy type 1 (DM1) is the most prevalent muscular dystrophy in adults. People with DM1 might represent a high-risk...
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Does Platelet-Rich Plasma Deserve a Role in Accelerating the Recovery of Reflex Sympathetic Dystrophy Following Distal Radius Fracture?
IntroductionThis study was to evaluate the efficacy of multiple platelet-rich plasma injections in reflex sympathetic dystrophy following distal...
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Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)
Purpose of reviewThis review aims to provide a summary of the pathophysiology, clinical presentation and management options for facioscapulohumeral...
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The pseudohypopyon stage in adult-onset foveomacular vitelliform dystrophy
PurposeTo gain insight into the pathogenesis of adult-onset foveomacular vitelliform dystrophy (AFVD) via assessment of its pseudohypopyon stage...
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Presumed Bietti crystalline dystrophy with optic nerve head drusen: a case report
BackgroundBietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal...
