Calcium is an important intracellular signaling molecule, and altered calcium channel function can cause widespread cellular changes. Genetic mutations in calcium channels that cause what appear to be trivial alterations of calcium currents in vitro can result in serious diseases in muscles and the nervous system. This article reviews calcium channelopathies in humans and mice. (+info)
Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibres.
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OBJECTIVE: To evaluate muscle pathology and clinical characteristics in patients with a myopathy and serum antibodies to the Jo-1 antigen (histidyl t-RNA synthetase). BACKGROUND: Anti-Jo-1 antibodies occur in syndromes that may include muscle weakness and pain, Raynaud's phenomenon, interstitial lung disease, arthritis, and a skin rash different from that seen in dermatomyositis. The muscle pathology is not well defined. METHODS: Case series. Review of charts, muscle biopsies, and laboratory records. Features of myopathology in 11 patients with anti-Jo-1 antibody associated myopathies were compared with other types of inflammatory myopathies. RESULTS: Myopathology in patients with anti-Jo-1 antibodies consistently included fragmentation of, and macrophage predominant inflammation in, perimysial connective tissue. Perifascicular myopathic changes, including atrophy, regenerating muscle fibres, and some muscle fibre necrosis, were most common in regions near the connective tissue pathology and were most prominent in patients with more severe weakness. Unlike many other inflammatory myopathies, inflammation in endomysial and perivascular regions was uncommon. By contrast with dermatomyositis, capillary density was normal. CONCLUSIONS: Myopathological changes in the anti-Jo-1 antibody syndrome include perimysial connective tissue fragmentation and inflammation, with muscle fibre pathology in neighbouring perifascicular regions. Myositis with anti-Jo-1 antibodies may result from an immune mediated disorder of connective tissue. (+info)
Necrotizing myopathy in a patient with chronic hepatitis C virus infection: a case report and a review of the literature.
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We describe a 61-year-old man presenting with necrotizing myopathy associated with chronic active hepatitis due to hepatitis C virus (HCV) infection. Thirteen patients with HCV-associated myopathy have been reported previously. In most of these cases, varying degrees of inflammatory changes were observed in the muscle tissue. In 2 patients, myopathy developed after initiation of interferon therapy for chronic HCV hepatitis. Our case was unusual due to long-standing elevation of creatine kinase values which improved following interferon therapy and the non-inflammatory features of the muscle tissue where the HCV RNA minus strand, a marker for replicative intermediates of the virus, was undetectable. The association of myopathy with HCV infection might represent a unique clinical entity, although the underlying pathological mechanisms remain unknown. (+info)
Centronuclear myopathy--morphological relation to developing human skeletal muscle: a clinicopathological evaluation.
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Centronuclear myopathy (CNM), an uncommon condition, is one of the congenital myopathies. It is believed to arise as a result of maturational arrest, with persistence of myotubes postnatally. However, denervation being the basic disease process and its possible influence on central nervous system causing defect in nuclear migration has also been postulated. Keeping in view these existing controversies, we have studied 17 cases of CNM (neonatal - 1, childhood - 13, adulthood - 3) during the last twelve and a half years. Diagnosis was based on histological and enzyme histochemical findings of muscle biopsy along with clinical data. Ultrastructural characterstics of muscle have been studied in 10 cases. The affected muscle fibres showed a central nucleus (40-99%) with perinuclear halo. Type I fibre predominance with hypoplasia was consistently seen. Fibre type disproportion was noticed in 7 cases. The neonatal form revealed dense oxidative enzyme reaction product in the centre. The morphological features of CNM were compared with foetal skeletal muscles obtained at gestational ages ranging from 9 weeks - 36 weeks (n = 18). In the severe neonatal form th myofibres resembled the foetal myotubes. In the less severe childhood and adult form of CNM, aberrant organization of cytoskeletal network might have played a pathogenetic role in causing the disease. (+info)
Acute alcoholic myopathy, rhabdomyolysis and acute renal failure: a case report.
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A case of middle aged male who developed swelling and weakness of muscles in the lower limbs following a heavy binge of alcohol is being reported. He had myoglobinuria and developed acute renal failure for which he was dialyzed. Acute alcoholic myopathy is not a well recognized condition and should be considered in any intoxicated patient who presents with muscle tenderness and weakness. (+info)
Popliteal vein entrapment: a benign venographic feature or a pathologic entity?
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PURPOSE: Asymptomatic morphologic popliteal vein entrapment is frequently found in the healthy population (27%). In our institution, popliteal vein compression on plantar flexion was observed in 42% of all ascending venograms. Some authorities consider the lesion benign, without pathologic significance. This study examines the pathophysiologic importance in select patients, describes treatment with surgery, and suggests a diagnostic tool. METHOD: Thirty severely symptomatic patients with venographic evidence of popliteal entrapment were selected to have popliteal vein release after a process of elimination (ie, other causes of chronic venous insufficiency [CVI] were ruled out by means of comprehensive hemodynamic and morphologic studies). In the last nine limbs, popliteal vein pressure was also measured by means of the introduction of a 2F transducer tip catheter. Patients were clinically and hemodynamically assessed before and after surgery, and anatomical anomalies encountered during surgery were recorded. RESULTS: Popliteal vein release was performed without mortality or serious morbidity. Anomalies of the medial head of the gastrocnemius muscle caused entrapment in 60% of the patients; anatomic course venous anomalies were infrequent (7% of the patients). Significant relief of pain and swelling occurred in the patients who had surgery. Stasis ulceration/dermatitis resolved in 82% of patients. Popliteal venous pressures had normalized in the six patients who were studied postoperatively. CONCLUSION: Popliteal vein entrapment should be included in the differential diagnosis of CVI in patients in whom other, more common etiologies have been excluded on the basis of comprehensive investigations. Popliteal vein compression can be demonstrated venographically in a large proportion of patients with CVI, but the lesion is likely pathological only in a small fraction of these patients. A technique for popliteal venous pressure measurement is described; it shows promise as a test for functional assessment of entrapment. Immediate results of popliteal vein release surgery are encouraging; long-term follow-up is necessary to judge the efficacy of surgical lysis of entrapment in symptomatic patients who fail to improve with conservative treatment measures. (+info)
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.
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X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at theta = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families. (+info)
Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.
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The mouse p locus encodes a gene that functions in normal pigmentation. We have characterized a radiation-induced mutant allele of the mouse p locus that is associated with a failure-to-thrive syndrome, in addition to diminished pigmentation. Mice homozygous for this mutant allele, p(100H), show delayed growth and die within 2 wk after birth. We have discovered that the mutant mice develop progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. These observations are common characteristics described in human myopathies. The karyotype of p(100H) chromosomes indicated that the mutation is associated with a chromosome 7 inversion. We demonstrate here that the p(100H) chromosomal inversion disrupts both the p gene and the Sox6 gene. Normal Sox6 gene expression has been examined by Northern blot analysis and was found most abundantly expressed in skeletal muscle in adult mouse tissues, suggesting an involvement of Sox6 in muscle maintenance. The p(100H) mutant is thus a useful animal model in the elucidation of myopathies at the molecular level. (+info)