Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry
Teresinha EvangelistaLibby WoodRoberto Fernández‐TorrónMaggie WilliamsDebbie SmithPeter LuntJudith A. HudsonFiona NorwoodRichard W. OrrellTracey WillisDavid Hilton‐JonesKaren RaffertyMichela GuglieriHanns Lochmüller
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Facioscapulohumeral muscular dystrophy
Neuroradiology
Muscular dystrophies are a group of disorders that cause progressive muscle weakness. There is an increasing interest for the development of biomarkers for these disorders and specifically for Duchene Muscular Dystrophy. Limited research however, has been performed on the biomarkers' development for the most rare muscular dystrophies, like the Facioscapulohumeral Muscular Dystrophy, Limb-Girdle Muscular Dystrophy and Myotonic Dystrophy type 2. Here, we aimed to identify novel serum-based miRNA biomarkers for these rare muscular dystrophies, through high-throughput next-generation RNA sequencing. We identified many miRNAs that associate with muscular dystrophy patients compared to controls. Based on a series of selection criteria, the two best candidate miRNAs for each of these disorders were chosen and validated in a larger number of patients. Our results showed that miR-223-3p and miR-206 are promising serum-based biomarkers for Facioscapulohumeral Muscular Dystrophy type 1, miR-143-3p and miR-486-3p for Limb-Girdle Muscular Dystrophy type 2A whereas miR-363-3p and miR-25-3p associate with Myotonic Dystrophy type 2. Some of the identified miRNAs were significantly elevated in the serum of the patients compared to controls, whereas some others were lower. In conclusion, we provide new evidence that certain circulating miRNAs may be used as biomarkers for three types of rare muscular dystrophies.
Facioscapulohumeral muscular dystrophy
Dysferlin
Muscle disorder
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Neuroradiology
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Muscular dystrophies are a clinically and genetically heterogeneous group of inherited myogenic disorders. In clinical tests for these diseases, creatine kinase (CK) is generally used as diagnostic blood-based biomarker. However, because CK levels can be altered by various other factors, such as vigorous exercise, etc., false positive is observed. Therefore, three microRNAs (miRNAs), miR-1, miR-133a, and miR-206, were previously reported as alternative biomarkers for duchenne muscular dystrophy (DMD). However, no alternative biomarkers have been established for the other muscular dystrophies.We, therefore, evaluated whether these miR-1, miR-133a, and miR-206 can be used as powerful biomarkers using the serum from muscular dystrophy patients including DMD, myotonic dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed vacuoles (DMRV) by qualitative polymerase chain reaction (PCR) amplification assay.Statistical analysis indicated that all these miRNA levels in serum represented no significant differences between all muscle disorders examined in this study and controls by Bonferroni correction. However, some of these indicated significant differences without correction for testing multiple diseases (P < 0.05). The median values of miR-1 levels in the serum of patients with LGMD, FSHD, and BMD were approximately 5.5, 3.3 and 1.7 compared to that in controls, 0.68, respectively. Similarly, those of miR-133a and miR-206 levels in the serum of BMD patients were about 2.5 and 2.1 compared to those in controls, 1.03 and 1.32, respectively.Taken together, our data demonstrate that levels of miR-1, miR-133a, and miR-206 in serum of BMD and miR-1 in sera of LGMD and FSHD patients showed no significant differences compared with those of controls by Bonferroni correction. However, the results might need increase in sample sizes to evaluate these three miRNAs as variable biomarkers.
Facioscapulohumeral muscular dystrophy
Limb-girdle muscular dystrophy
Creatine kinase
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Neuroradiology
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Facioscapulohumeral muscular dystrophy
Emerin
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BETWEEN the middle and the end of the 19th century, muscular dystrophies were established as clinical and pathological entities distinct from neurogenic muscular atrophies. However, keen eyes of excellent clinicians have never overlooked unusual signs occasionally observed in muscular dystrophy patients. Landouzy and Déjèrine1observed fasciculations in one of their patients with facioscapulohumeral (FSH) dystrophy and stated, "Fibrillary contractions of muscle favor myelopathy." Some cases of atypical muscular dystrophies with fasciculations have been described. As early as 1886 Penzoldt2recognized such a disease and considered it a transitional form between muscular dystrophy and spinal muscular atrophy. Erb3in 1910 emphasized the difficulty in diagnosing muscular dystrophy because of the presence of such a transitional form. However, little attention was paid such atypical muscular dystrophies. Recently, biochemical, electron microscopic, and electrophysiological studies have shown the presence of several new diseases, some of which are clinically difficult to differentiate
Facioscapulohumeral muscular dystrophy
Fasciculation
Congenital muscular dystrophy
Progressive muscular atrophy
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BETWEEN the middle and the end of the 19th century, muscular dystrophies were established as clinical and pathological entities distinct from neurogenic muscular atrophies. However, keen eyes of excellent clinicians have never overlooked unusual signs occasionally observed in muscular dystrophy patients. Landouzy and Déjèrine1observed fasciculations in one of their patients with facioscapulohumeral (FSH) dystrophy and stated, "Fibrillary contractions of muscle favor myelopathy." Some cases of atypical muscular dystrophies with fasciculations have been described. As early as 1886 Penzoldt2recognized such a disease and considered it a transitional form between muscular dystrophy and spinal muscular atrophy. Erb3in 1910 emphasized the difficulty in diagnosing muscular dystrophy because of the presence of such a transitional form. However, little attention was paid such atypical muscular dystrophies. Recently, biochemical, electron microscopic, and electrophysiological studies have shown the presence of several new diseases, some of which are clinically difficult to differentiate
Facioscapulohumeral muscular dystrophy
Fasciculation
Congenital muscular dystrophy
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Facioscapulohumeral muscular dystrophy
Neuromuscular disease
Dystrophy
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