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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Muscular dystrophies are a heterogeneous group of disorders linked to defects in 20-30 different genes. Mutations in the genes encoding a pair of nuclear envelope proteins, emerin and lamin A/C, have been shown to cause the X-linked and autosomal forms respectively of Emery-Dreifuss muscular dystrophy. A third form of muscular dystrophy, limb girdle muscular dystrophy 1b, has also been linked to mutations in the lamin A/C gene. Given that these two genes are ubiquitously expressed, a major goal is to determine how they can be associated with tissue specific diseases. Recent results suggest that lamin A/C and emerin contribute to the maintenance of nuclear envelope structure and at the same time may modulate the expression patterns of certain mechanosensitive and stress induced genes. Both emerin and lamin A/C may play an important role in the response of cells to mechanical stress and in this way may help to maintain muscle cell integrity.
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PMID:Nuclear envelope defects in muscular dystrophy. 1690 76

Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert-Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients.
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PMID:Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred. 1735 52

Emery-Dreifuss muscular dystrophy (EDMD) is an hereditary syndrome characterized by slow but progressive locomotor involvement and cardiomyopathy. Cardiac impairment is often the life-limiting feature of the illness. Only a few cases of cardiac transplantation have been reported previously in muscular dystrophy, and only 4 cases of end-stage disease due to EDMD have been treated previously with heart transplantation. Herein we have reported our experince with 2 consecutive patients who underwent heart transplantation for EDMD cardiomyopathy.
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PMID:Heart transplantation in patients with Emery-Dreifuss muscular dystrophy: case reports. 1808 32

With improved screening of patients with primary and secondary myopathies and more comprehensive investigations it turns out that an increasing number of patients with myopathies develops cardiac disease (cardiac involvement), before or after onset of the neuromuscular abnormalities. Cardiac involvement in myopathies manifests within the myocardium or the cardiac conduction system with impulse generation or conduction disturbances. An increasingly recognized rhythm abnormality in these patients is atrial fibrillation/flutter (AFI/AFL), which carries an increased risk for stroke embolism and represents an absolute indication for oral anticoagulation (OAC). Primary myopathies, in which AFI/AFL has been described so far include dystrophinopathies, Emery-Dreifuss muscular dystrophy, facio-scapulo-humeral muscular dystrophy, limb girdle muscular dystrophies, congenital myopathies, myofibrillar myopathies, myotonic dystrophies, glycogenoses, mitochondrial disorders, Barth syndrome, McLeod syndrome, and non-specific myopathies. Secondary myopathies, in which AFI/AFL has been described comprise polymyositis, dermatomyositis, colchicine-induced myopathy, and hyperthyroid myopathy. Myopathies most commonly associated with AFI/AFL are myotonic dystrophy and Emery-Dreifuss muscular dystrophy. Information about the frequency of stroke/embolism in these patients is rudimentary but there are indications that it is not increased in these patients. Only a few patients with AFI/AFL receive OAC to prevent from stroke/embolism. Patients with myopathy and AFI/AFL require thorough surveillance. If additional cardiovascular risk factors develop, OAC should be considered as in patients with other causes of AFI/AFL.
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PMID:Atrial fibrillation/flutter in myopathies. 1834 11

Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD). We compared clinical features of the muscular dystrophy patients associated with mutations in EMD (emerinopathy) and LMNA (laminopathy) in our series. The incidence of laminopathy was slightly higher than that of emerinopathy. The age at onset of the disease in emerinopathy was variable and significantly older than in laminopathy. The initial symptom of emerinopathy was also variable, whereas nearly all laminopathy patients presented initially with muscle weakness. Calf hypertrophy was often seen in laminopathy, underscoring the importance of mutation screening for LMNA in childhood muscular dystrophy with calf hypertrophy. The clinical spectrum of emerinopathy is actually wider than previously known including EDMD, LGMD, conduction defects with minimal muscle/joint involvement, and their intermittent forms. Pathologically, no marked difference was observed between emerinopathy and laminopathy. Increased number and variation in size of myonuclei were detected. More precise observations using electron microscopy is warranted to characterize the detailed nuclear changes in nuclear envelopathy.
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PMID:Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. 1864 65

Emery-Dreifuss muscular dystrophy (EDMD) is a rare disorder characterized by early joint contractures, muscular dystrophy, and cardiac involvement with conduction defects and arrhythmias. So far, only 35% of EDMD cases are genetically elucidated and associated with EMD or LMNA gene mutations, suggesting the existence of additional major genes. By whole-genome scan, we identified linkage to the Xq26.3 locus containing the FHL1 gene in three informative families belonging to our EMD- and LMNA-negative cohort. Analysis of the FHL1 gene identified seven mutations, in the distal exons of FHL1 in these families, three additional families, and one isolated case, which differently affect the three FHL1 protein isoforms: two missense mutations affecting highly conserved cysteines, one abolishing the termination codon, and four out-of-frame insertions or deletions. The predominant phenotype was characterized by myopathy with scapulo-peroneal and/or axial distribution, as well as joint contractures, and associated with a peculiar cardiac disease characterized by conduction defects, arrhythmias, and hypertrophic cardiomyopathy in all index cases of the seven families. Heterozygous female carriers were either asymptomatic or had cardiac disease and/or mild myopathy. Interestingly, four of the FHL1-mutated male relatives had isolated cardiac disease, and an overt hypertrophic cardiomyopathy was present in two. Expression and functional studies demonstrated that the FHL1 proteins were severely reduced in all tested patients and that this was associated with a severe delay in myotube formation in the two patients for whom myoblasts were available. In conclusion, FHL1 should be considered as a gene associated with the X-linked EDMD phenotype, as well as with hypertrophic cardiomyopathy.
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PMID:Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy. 1971 12

We have performed a detailed population study of patients with genetic muscle disease in the northern region of England. Our current clinic population comprises over 1100 patients in whom we have molecularly characterized 31 separate muscle disease entities. Diagnostic clarity achieved through careful delineation of clinical features supported by histological, immunological and genetic analysis has allowed us to reach a definitive diagnosis in 75.7% of our patients. We have compared our case profile with that from Walton and Nattrass' seminal study from 1954, also of the northern region, together with data from other more recent studies from around the world. Point prevalence figures for each of the five major disease categories are comparable with those from other recent studies. Myotonic dystrophies are the most common, comprising 28.6% of our clinic population with a point prevalence of 10.6/100,000. Next most frequent are the dystrophinopathies and facioscapulohumeral muscular dystrophy making up 22.9% (8.46/100,000) and 10.7% (3.95/100,000) of the clinic population, respectively. Spinal muscular atrophy patients account for 5.1% or 1.87/100,000 patients. Limb girdle muscular dystrophy, which was described for the first time in the paper by Walton and Nattrass (1954) and comprised 17% of their clinic population, comprises 6.2% of our clinic population at a combined prevalence of 2.27/100,000. The clinic population included patients with 12 other muscle disorders. These disorders ranged from a point prevalence of 0.89/100 000 for the group of congenital muscular dystrophies to conditions with only two affected individuals in a population of three million. For the first time our study provides epidemiological information for X-linked Emery-Dreifuss muscular dystrophy and the collagen VI disorders. Each of the X-linked form of Emery-Dreifuss muscular dystrophy and Ullrich muscular dystrophy has a prevalence of 0.13/100,000, making both very rare. Bethlem myopathy was relatively more common with a prevalence of 0.77/100,000. Overall our study provides comprehensive epidemiological information on individually rare inherited neuromuscular conditions in Northern England. Despite the deliberate exclusion of relatively common groups such as hereditary motor and sensory neuropathy (40/100,000) and mitochondrial disorders (9.2/100,000), the combined prevalence is 37.0/100,000, demonstrating that these disorders, taken as a group, encompass a significant proportion of patients with chronic disease. The study also illustrates the immense diagnostic progress since the first regional survey over 50 years ago by Walton and Nattrass.
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PMID:Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population. 1976 15

Bethlem myopathy and Ullrich congenital muscular dystrophy are part of the heterogeneous group of collagen VI-related muscle disorders. They are caused by mutations in collagen VI (ColVI) genes (COL6A1, COL6A2, and COL6A3) while LMNA mutations cause autosomal dominant Emery-Dreifuss muscular dystrophy. A muscular dystrophy pattern and contractures are found in all three conditions, making differential diagnosis difficult especially in young patients when cardiomyopathy is absent. We retrospectively assessed upper and lower limb muscle CT scans in 14 Bethlem/Ullrich patients and 13 Emery-Dreifuss patients with identified mutations. CT was able to differentiate Emery-Dreifuss muscular dystrophy from ColVI-related myopathies in selected thigh muscles and to a lesser extent calves muscles: rectus femoris fatty infiltration was selectively present in Bethlem/Ullrich patients while posterior thigh muscles infiltration was more prominently found in Emery-Dreifuss patients. A more severe fatty infiltration particularly in the leg posterior compartment was found in the Emery-Dreifuss group.
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PMID:Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. 2057 34

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy involving both cardiac and skeletal muscles. Cardiac involvement frequently leads to dilated cardiomyopathy, arrhythmias and may precipitate sudden cardiac death. Skeletal involvement is characterised by early contractures and muscle weakness in the humeroperoneal distribution. We describe the anaesthetic management of a 29-year-old patient with Emery-Dreifuss muscular dystrophy presenting for elective caesarean section and discuss the disorder and its potential anaesthetic implications.
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PMID:Elective caesarean section for a woman with Emery-Dreifuss muscular dystrophy. 2071 41

Mutations in the lamin A/C gene determine a heterogeneous group of congenital diseases, termed laminopathies, consisting of more than 15 phenotypes, including autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B. Early onset in infancy has been described in these muscular dystrophies. Reported here is a 7-year-old male with congenital muscular dystrophy. Remarkably, muscle weakness and wasting affected predominantly axial muscles as well as proximal upper and distal lower extremities. The patient rapidly developed joint contractures and spine rigidity with the head only mildly flexed. Serum creatine kinase was moderately elevated. Muscle biopsy indicated a dystrophic pattern with normal immunochemical findings. A novel, de novo missense substitution p.Asn39Tyr within the lamin A/C gene confirmed the diagnosis of a laminopathy. This report broadens the spectrum of lamin A/C gene mutations and illustrates the phenotypic variability of laminopathies with early onset congenital muscular dystrophy. Mutations in the lamin A/C gene should be sought in any infant with dystrophic features and normal tissue immunochemical studies; especially in the presence of moderately elevated serum creatine kinase, predominant axial and humeroperoneal weakness, spine rigidity, and joint contractures.
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PMID:Novel LMNA mutation presenting as severe congenital muscular dystrophy. 2083 9


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