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Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care
BackgroundIn patients without a family history, Duchenne muscular dystrophy (DMD) is typically diagnosed at around 4–5 years of age. It is important...
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Whole-muscle fat analysis identifies distal muscle end as disease initiation site in facioscapulohumeral muscular dystrophy
BackgroundFacioscapulohumeral dystrophy (FSHD) is a major muscular dystrophy characterized by asymmetric fatty replacement of muscles. We aimed to...
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Deep learning for detection of Fuchs endothelial dystrophy from widefield specular microscopy imaging: a pilot study
BackgroundTo describe the diagnostic performance of a deep learning (DL) algorithm in detecting Fuchs endothelial corneal dystrophy (FECD) based on...
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Evaluation of scleral thickness in patients with Fuchs endothelial dystrophy
PurposeTo evaluate scleral thickness using anterior segment-optical coherence tomography (AS-OCT) in Fuchs endothelial dystrophy (FED) and compare...
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Heterogeneity of cognitive impairments in myotonic dystrophy type 1 explained by three distinct cognitive profiles
BackgroundSeverity and nature of cognitive impairments in Myotonic dystrophy type 1 (DM1) are heterogeneous among studies. We hypothesized that this...
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Histological findings of corneal tissue after failed phototherapeutic keratectomy in macular corneal dystrophy – a case report
BackgroundMacular corneal dystrophy is a rare inherited disease of the cornea leading to deposits mainly in the stroma. Affected patients suffer from...
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Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases
There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy...
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Longitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy
ObjectivesBietti Crystalline Dystrophy (BCD) is an autosomal recessive progressive retinal disease caused by mutations in CYP4V2 . We have...
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Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
AimMuscular dystrophy (MD) is a progressive disease with predominantly muscular symptoms. Myotonic dystrophy type II (MD2) and facioscapulohumeral...
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Electrocardiographic features of children with Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a clinically common X-linked recessive myopathy, which is caused by mutation of the gene encoding dystrophin on...
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The National Israeli Registry for Oculo-Pharyngeal Muscular Dystrophy (IsrO-PMD): rationale and design
BackgroundOculo-pharyngeal muscular dystrophy (OPMD) is a rare disease, caused by trinucleotide repeat expansion in the PABPN1 gene, inherited in an...
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Social cognition in two brothers with Becker muscular dystrophy: an exploratory study revealing divergent behavioral phenotypes
Background and objectiveOnly few studies investigated social cognition in Becker muscular dystrophy (BMD). However, brain dystrophin deficiency could...
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Risk factors associated with prevalent vertebral fractures in Duchenne muscular dystrophy
SummaryPatients with Duchenne muscular dystrophy (DMD) have a high fracture burden due to progressive myopathy and steroid-induced osteoporosis. This...
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Phenotypic variability in PRPH2 as demonstrated by a family with incomplete penetrance of autosomal dominant cone-rod dystrophy
IntroductionMutations in the peripherin-2 gene ( PRPH2 ) are a common cause of inherited retinal dystrophies well known for their phenotypic...
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Diverse Cardiac Phenotype of Becker Muscular Dystrophy: Under-Recognized Subclinical Cardiomyopathy Due to Partial Dystrophin Deficiency in a Contemporary Era
Becker muscular dystrophy (BMD) is an X-linked recessive disorder responsible for mild skeletal muscle involvement and variable degree of...
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The metabolomic plasma profile of patients with Duchenne muscular dystrophy: providing new evidence for its pathogenesis
BackgroundDuchenne muscular dystrophy (DMD) is a fatal genetic muscle-wasting disease that affects 1 in 5000 male births with no current cure....
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Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1
BackgroundLimb Girdle Muscular Dystrophy R1 (LGMDR1) is an autosomal recessive neuromuscular disease caused by mutations in the calpain-3 ( CAPN3) ...
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Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial
Bietti crystalline corneoretinal dystrophy is an inherited retinal disease caused by mutations in CYP4V2 , which results in blindness in the...
