11/365. "Myotubular Myopathy" and "type I fiber atrophy" in a family.An 11-month-old girl and her mother had similar muscular weakness and wasting shich started in early life and were non-progressive throughout the course of the illness. Muscle biopsy in the girl revealed muscle fibers with central nuclei and surrounding clear areas compatible with myotubular, centronuclear or peri-centri-nuclear myopathy, whereas the biopsy from the mother showed a selective atrophy of Type I fibers without central nuclei. Since the grandfather also had similar clinical features, a heredofamilial neuromuscular disease was thought likely, and it is postulated that the pathological change in the girl represented an earlier, and in the mother a later manifestation of the same disease.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
12/365. Neuromyotonia. A mild case.A mild case of the syndrome of generalized, sustained, fine muscular twitchings and impaired relaxation after a vigorous contraction (but without a myotonic response), which is presumably due to peripheral motor nerve hyperactivity is described. In this case, generalized muscle stiffness, deformities of the hands and feet, excessive sweating and an increased basal metabolic rate were not present.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
13/365. colchicine myoneuropathy in a renal transplant patient.colchicine is widely employed for the treatment of gout in renal transplant patients where NSAIDs are contra-indicated and allopurinol prophylaxis is often avoided due to concomitant azathioprine immunosuppression. We report here a case of colchicine-induced myoneuropathy in a renal transplant recipient. Our patient had myalgia, muscle weakness, elevated creatine kinase levels, myopathic changes on electromyography and peripheral neuropathy. Withdrawal of colchicine resulted in recovery within 4 weeks. Renal transplant recipients are likely to be at greater risk of colchicine-induced myoneuropathy due to the unique concurrence of risk factors predisposing to toxicity in such patients. These risk factors include the high incidence of gout in this population, widespread use of colchicine as first-line therapy, impaired renal function and concomitant cyclosporin treatment. The diagnosis should be considered in any renal transplant recipient receiving the drug who develops myopathy. Prompt withdrawal of colchicine therapy should result in rapid clinical and biochemical improvement.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
14/365. colchicine neuromyopathy: a report of six cases.colchicine has been in use for therapeutic purposes for many years. It can, however, cause subacute onset muscle and peripheral nerve toxicity in patients with chronic renal failure. In this report we describe 6 patients who developed neuromyopathy after the administration of colchicine. All patients presented with proximal muscle weakness, elevated serum creatine kinase (CK) levels, and neuropathy and/or myopathy on electromyography (EMG). The diagnosis of colchicine toxicity was confirmed in all cases by the normalization of CK levels and EMG after discontinuation of the drug. Toxicity developed in 4 renal failure patients on therapeutic doses of the drug, while one patient took a massive dose for suicidal reasons, and the other was on high-dose therapy. patients using colchicine--especially those with renal failure--should be warned about the side effects of the drug and physicians should be careful in the administration of the drug.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
15/365. Neuromuscular hamartoma: imaging features of a rare paediatric craniofacial tumour.Neuromuscular hamartoma (also referred to as neuromuscular choristoma or benign triton tumour) has not previously been described in the radiological literature. It is a rare benign lesion composed of mature elements of striated muscle and neural tissue. We report a case of neuromuscular hamartoma involving the skull base, nasopharynx, orbit and maxilla in a 2.5-year-old child who presented with facial swelling. The CT and MRI appearances of this unusual soft-tissue tumour are emphasized, together with a discussion of the pathological findings, differential diagnosis and review of the literature.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
16/365. Electrical impedance of muscle during isometric contraction.Non-invasive measurements of the 50 kHz impedance of the anterior forearm show that the resistance and reactance increase under voluntary isometric contraction of the finger flexor muscles. The relationship between impedance and force is nonlinear, dependent on the type of test, the history of prior exercise, and the health status of the subject. Nevertheless, useful dynamic response parameters betaR = deltaR/R0deltaF and betax = deltaX/X0deltaF can be defined, typically a few hundredths of a per cent per newton. Evidence is presented for the view that these effects reflect dominantly physiological as opposed to morphological changes in the muscle. In particular, (a) the impedance changes many milliseconds before the force is generated, (b) betaR and betaX change substantially during a series of repetitions of the same exercise, and (c) the impedance does not return to its original value following relaxation of the muscle. Supporting data are presented for six healthy men and women, with ages ranging from 19 to 70 years. A preliminary study of patients with various neuromuscular diseases was also performed, amongst whom marked quantitative and qualitative contrasts with the healthy group were found. Further research aimed at assessing the clinical potential of such measurements is discussed, as are studies to elucidate the underlying mechanisms for the impedance changes. We propose the name 'dynamic electrical impedance myography' for this new technique.- - - - - - - - - - ranking = 7keywords = muscle (Clic here for more details about this article) |
17/365. Long-term follow-up of home mechanical ventilation in young children with spinal cord injury and neuromuscular conditions.OBJECTIVES: To provide outcomes of two decades of experience in home ventilation of children with spinal cord injury and neuromuscular conditions. STUDY DESIGN: Data were collected through chart review and interviews on 39 children who had become ventilator-dependent before their 6th birthday; 23 children had neuromuscular diseases and 16 had spinal cord injuries. RESULTS: patients required an average of 0.7 rehospitalizations per year. There were 8 deaths. survival rates were 97% at 1 year, 97% at 3 years, 84% at 5 years, and 71% at 10 years. Thirty children attended school, 13 were in regular school (1 at university level), 5 were home-schooled, 5 were in special education schools, and 5 were in regular school with some special education classes. One graduated high school, and another graduated university and received a graduate degree. Three children had progressive weakness. Two gained significant muscle strength. CONCLUSIONS: Our experience showed that these patients can be discharged to home with low morbidity and mortality rates and successful reintegration into the community.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
18/365. McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement.BACKGROUND: The X-linked McLeod neuroacanthocytosis syndrome is a multisystem disorder with hematologic, neuromuscular, and central nervous system (CNS) manifestations. All carriers of the McLeod blood group phenotype examined so far had at least subclinical signs of systemic involvement. STUDY DESIGN AND methods: Evaluation of two brothers carrying the McLeod phenotype with neurologic examination, immunohematology, RBC membrane protein Western blotting, analysis of XK dna sequence and rna levels, muscle histology including XK/Kell immunohistochemistry, cerebral magnetic resonance imaging (MRI), and quantified positron emission tomography (PET). RESULTS: Immunohematology and Western blotting confirmed presence of the McLeod blood group phenotype. No acanthocytosis or other hematologic anomalies were found. XK gene sequence analysis revealed a missense mutation in exon 3 (E327K). WBC XK rna levels were not decreased. There were no neuromuscular and CNS signs or symptoms. In addition, no subclinical involvement was discovered on the basis of normal muscle histology with a physiologic pattern of XK and Kell immunohistochemistry, normal cerebral MRI, and quantified PET. CONCLUSION: Known disease-causing XK gene mutations comprised deletions, nonsense, or splice-site mutations predicting absent or truncated XK protein devoid of the Kell-protein binding site. Although the E327K missense mutation was associated with the immunohematologic characteristics of McLeod syndrome, the mutated XK protein seemed to be largely functional. These findings contribute to the understanding of the physiology of XK and Kell proteins, and the pathogenetic mechanisms of acanthocytosis, myopathy, and striatal neurodegeneration in McLeod syndrome.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
19/365. The intermediate syndrome in organophosphate poisoning: presentation of a case and review of the literature.A dimethoate-poisoned woman gradually developed a moderately severe cholinergic crisis that was readily treated by atropine. After being symptom-free for nearly two days, she suffered from sudden life-threatening respiratory paresis and weakness of the facial, extraocular, neck flexor and proximal limb muscles. Muscarinic symptoms were absent. Cholinesterase inhibition was severe, and EMG revealed marked decrements at low rates of repetitive nerve stimulation, and increments at a high rate. The clinical course was compatible with the Intermediate syndrome. This syndrome seems due to persistent cholinesterase inhibition presumably leading to combined pre- and postsynaptic impairment of neuromuscular transmission. Inadequate pralidoxime therapy is proposed but not established as contributory. Prolonged monitoring of respiratory function in patients poisoned by particular organophosphate agents is mandatory.- - - - - - - - - - ranking = 1.0124662195426keywords = muscle, limb (Clic here for more details about this article) |
20/365. An especially mild myopathic form of glycogenosis type II. Problems of clinical and light microscopic diagnosis.Report of a 20 months old child showing a mild form of glycogenosis type II (POMPE, 1932) with preferential involvement of skeletal muscle. First muscle biopsy reveals, on light microscopic examination, only a mild vacuolar myopathy. By PAS-staining pathologic glycogen storage can be shown. Glycogenosis type II is proved by ultrastructural and biochemical studies of muscle tissue obtained by a second biopsy. Consequently in all cases of a floppy infant syndrome with myopathic features it is necessary to obtain tissue for biochemical and ultrastructural analysis and to carry out these techniques if by light microscopic examination a vacuolar myopathy with increase of glycogen is found.- - - - - - - - - - ranking = 3keywords = muscle (Clic here for more details about this article) |
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