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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A protruding auricle is usually associated with a defect in development or function of the posterior auricular muscle, which normally draws the pinna towards the calvarium. Hence, a protruding auricle may be a sign of a neuromuscular disorder, as is ptosis.
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PMID:Protruding auricle: A neuromuscular sign. 7 51

The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings--the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery--supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
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PMID:Centronuclear myopathy: possible central nervous system origin. 75 9

We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients' neuromuscular disorder.
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PMID:Centronuclear myopathy with special consideration of the adult form. 654 24

Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
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PMID:Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome. 634 61

Bilateral ophthalmoplegia and ptosis is reported for the first time in a patient with a rare neuromuscular disorder, congenital fiber type disproportion (CFTD). The importance of limb muscle biopsy in the diagnostic evaluation is emphasized. A summary is presented of other congenital neuromuscular diseases which may have associated ophthalmoplegia.
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PMID:Ophthalmoplegia and ptosis in congenital fiber type disproportion. 726 53

Oculopharyngodistal myopathy is characterized by the adult onset of ptosis, external ophthalmoplegia, dysphagia, and distal weakness. Although dysphagia is common, other gastrointestinal involvement has not been described. We report a case with childhood onset who developed chronic intestinal pseudo-obstruction. Other myopathies associated with ophthalmoplegia and intestinal pseudo-obstruction such as mitochondrial cytopathies were excluded. Whether oculopharyngodistal myopathy is a variant of oculopharyngeal muscular dystrophy or a distinct neuromuscular disorder is unknown and requires further study.
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PMID:Childhood-onset oculopharyngodistal myopathy with chronic intestinal pseudo-obstruction. 763 Mar 44

Within the last 30 years, sixty-five patients exhibiting the clinical symptoms of oculopharyngeal muscular dystrophy (OPMD) were studied at the Neuromuscular Diseases Unit of the Neurological Institute of Montevideo. They are members of five unrelated families which came from the Canary Islands to Uruguay between 1850 and 1900. In the three families examined, the typical inclusions characteristic of OPMD were found in the nuclei of muscle fibers. Treatment for ptosis and dysphagia was discussed. The particular migratory pattern of this group of patients could be of considerable interest in the study of molecular genetics.
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PMID:Oculopharyngeal muscular dystrophy in Uruguay. 939 16

We report a 75-year-old Spanish-American woman who received a diagnosis of oculopharyngeal muscular dystrophy after presenting with ptosis and dysphagia. She also complained of snoring and daytime somnolence, and was found to have obstructive sleep apnea (OSA) syndrome attributable to her neuromuscular disorder. This is the first report of OSA syndrome complicating typical, adult-onset oculopharyngeal muscular dystrophy, and should prompt the evaluation of other such patients for sleep-disordered breathing.
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PMID:Obstructive sleep apnea syndrome complicating oculopharyngeal muscular dystrophy. 1471 63

The congenital myasthenic syndromes (CMS) constitute a group of genetic disorders, which affect neuromuscular transmission, presenting usually within the first years of life and with a clinical spectrum ranging from mild muscle weakness to severe disability with life-threatening episodes. We present clinical and neurophysiological data of 11 patients (four males, seven females) with CMS diagnosed during the last 5 years. Eight of the 11 patients presented immediately after birth and the remainder by 10 months of age; eight patients had contractures at birth and seven of them required assisted ventilation either immediately in the neonatal period, or at some point afterwards due to respiratory distress or recurrent apnoeas. Neurological signs at presentation were: in nine patients profound hypotonia, in five absent tendon reflexes, in seven ptosis and in eight bulbar signs. In six patients an edrophonium test was performed: only three of them had a positive response; however, eight out of 11 patients responded at least partially at some point in their illness to pyridostigmine. Diagnosis of CMS was confirmed either by demonstration of a decrement after repetitive nerve stimulation or by increased instability and jitter after stimulated single fibre EMG. In five patients, there was a positive family history with death of at least one previous sibling with an undiagnosed neuromuscular disorder. As regards final outcome, five patients died at ages ranging from 1 to 17 months, two patients are still ventilator-dependent at 3 and 5 months of life, respectively, and four patients still survive with either a mild or a moderate motor delay (follow-up range 8-38 months). None of the clinical or neurophysiological characteristics were correlated with outcome (Fisher's exact test). We conclude that a significant number of CMS patients may present in the neonatal period with a variable clinical expression and usually with a poor prognosis. The recognition of specific clinical constellations combined with a search for aetiology at a molecular level will enable the further characterisation of subgroups of CMS.
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PMID:Clinical and neurophysiological characteristics of congenital myasthenic syndromes presenting in early infancy. 1472 15

Lambert-Eaton myasthenic syndrome (LEMS) is a neuromuscular disorder in which autoantibodies inhibit the presynaptic release of acetylcholine. Autoantibodies against P/Q-type voltage-gated calcium channels (VGCC) are detected in 85% of patients with LEMS. In addition, autoantibodies to synaptotagmin, an M1-type muscarinic acetylcholine receptor and SOX1 are also found in the sera of patients with LEMS. LEMS is closely associated with small cell lung cancer (SCLC) in 50-60% of patients. Patients with SCLC who have anti-VGCC antibodies have been reported to have a favorable prognosis. In contrast to paraneoplatic LEMS, other forms of LEMS may have an autoimmune aspect because of the established association between human leukocyte antigen and a family history of other autoimmune disorders in this condition. The clinical features of LEMS include proximal weakness, areflexia, ptosis, cerebellar ataxia and autonomic dysfunction. The findings of electrophysiological examination show that LEMS is characterized by compound muscle action potential potentials with a low amplitude and increment upon repetitive nerve stimulation at a high rate. Tumor removal is the primary treatment of LEMS. The efficacy of 3,4-diaminopyridine for the treatment of LEMS has also been established. Patients with LEMS require the immunotherapies such as plasma exchange and the administration of high doses of immunoglobulin and prednisolone.
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PMID:[Lambert-Eaton myasthenic syndrome (LEMS)]. 2042 Jan 83


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