Myotonic dystrophy with neural involvement

Caccia, M. R.; Negri, S.; Parvis, V Preto

doi:10.1016/0022-510x(72)90191-8

Cited by 34 publications

(15 citation statements)

References 17 publications

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“…3). In contrast with the report of Cros et al [6], the myelinated fiber density was not reduced, except for case 15. The loss of large myelinated fibers appears to be numerically compensated by clusters of small regenerated nerve fibers.…”

Section: Discussioncontrasting

confidence: 55%

“…In addition to the central nervous system [1,12], peripheral nerves are also involved [4,6,9,10,16,21,24]. Electrophysiological studies revealed a sensorimotor axonal neuropathy [21].…”

Section: Discussionmentioning

confidence: 99%

“…In the present study, 3 cases revealed obvious pathological alterations, which were consistent with a predominantly axonal type of neuropathy of slight to moderate severity with a minor demyelinating component. Cros et al [6] found chronic axonopathies of moderate severity in sural nerves from 11, and evidence of focal demyelination and remyelination in 9 out of 13 patients [7].…”

Section: Discussionmentioning

confidence: 99%

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Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy

Wang

Schröder

2000

Acta Neuropathol

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We compared peripheral nerve fibers and muscle fibers in myotonic dystrophy (MD) using a computer-assisted device for morphometry. In the 17 cases with MD studied, the sural nerves of 14 cases (82%) showed various degrees of reduction of the myelin sheath area (MSA) per endoneurial area. Of these, 8 cases (47%) presented with a mild reduction of the MSA, 5 cases (29.4%) with moderate reduction, and one case (6%) with severe reduction. The number of myelinated nerve fibers was not significantly reduced in MD when compared with control nerves, due to clusters of small regenerated nerve fibers. The mean diameter of the muscle fibers in 6 of the 17 cases was less than 40 microm. Of these 6 severely affected cases, 5 revealed a considerable reduction of the MSA. Other cases, which appeared to be normal in respect to the diameter of muscle fibers, showed various degrees of reduction of the MSA. Thus, there is usually, but not always a morphometric correlation of the severity of changes between peripheral nerves and muscle. The severity of the peripheral neuropathy appears to depend largely on the patient's age, the stage of the disorder, and the time of progression. Electron microscopic examination of sural nerves showed significant, though non-specific pathological changes.

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Section: Discussioncontrasting

confidence: 55%

“…In addition to the central nervous system [1,12], peripheral nerves are also involved [4,6,9,10,16,21,24]. Electrophysiological studies revealed a sensorimotor axonal neuropathy [21].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy

Wang

Schröder

2000

Acta Neuropathol

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“…Some reports of MyD occurring in association with neuropathy [4,13,211 have suggested that neuropathic features should be sought in all such cases. Although we found a significant reduction in mean median motor nerve conduction velocities of affected subjects compared to normal family members or to those classified as having a partial syndrome, some individuals with MyD still had velocities considered to be within the normal range.…”

Section: Clinical Featuresmentioning

confidence: 98%

Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

Pryse-Phillips

Johnson

Larsen

1982

Annals of Neurology

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In a large kinship affected by myotonic dystrophy (MyD), 133 subjects, including 21 spouses, were examined independently by a neurologist and an ophthalmologist to determine the earliest identifying evidence of the disease. Assessment included tonometry, slit-lamp examination, facial measurements, and electromyography (EMG). Thirty-two subjects, all of whom had EMG characteristics of myotonia, were definitely affected. Low intraocular tensions were a more consistent finding than lens opacities; endocrine abnormalities were absent. Twenty-seven subjects had one to five features but lacked clinical or electrographic evidence of myotonia; they were designated as having a "partial syndrome." Signs most commonly found included weakness of the upper face, brachial hyporeflexia, low intraocular tensions, and the presence of sparse colored specks at the posterior poles of the lenses. All but 2 subjects (siblings) with the partial syndrome had a parent with either MyD or the partial syndrome. Linkage studies indicated that 7 subjects should not be carrying the gene, while others could be regarded as having a minor expression of MyD. In most persons with the partial syndrome, we could not predict whether typical MyD would develop later. Transmission of the disease may depend upon more than a single autosomal dominant gene, and nongenetic influences may also be important.

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“…Atrophy and loss of type I1 skeletal muscle fibers accompanies several heritable muscle disorders including Duchenne muscular dystrophy [3], myotonic muscular dystrophy [4], and several forms of congenital myopathy [5]. A large amount of evidence has accumulated suggesting that the pathogenesis of these diseases may result from a structural and/or functional abnormality in the sarcolemma [6].…”

Section: Introductionmentioning

confidence: 98%

Decreased osmotic fragility in heritable canine myopathy

1983

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Osmotic fragility was examined in red blood cells from dogs with a heritable muscle disorder that clinically resembles a muscular dystrophy. Several erythrocyte abnormalities have been reported in patients with certain forms of muscular dystrophy and it is thought that these changes reflect genetically induced alterations in the plasma membrane. It is believed that the examination of erythrocytes may eventually lead to the understanding of membrane involvement in muscle disorders. In this study, the mean osmotic fragility was found to be significantly lower in affected cells than in normal cells. These differences were maintained regardless of changes in incubation temperature (5 degrees, 20 degrees, or 35 degrees C) and pH (6.5, 7.0, 7.5, or 8.0). Quantitative analysis of glycolytic metabolites and adenine nucleotide concentrations revealed little variance between erythrocytes from normal and affected animals. Similarly, the pattern of membrane protein phosphorylation in intact erythrocytes from affected animals did not differ from that observed when erythrocytes from normal animals were examined. Of the red cell indices measured, the erythrocyte count in affected animals was moderately increased, but both the mean corpuscular volume and mean corpuscular hemoglobin content were significantly reduced. From these data it is concluded that the decrease in osmotic fragility cannot be explained by differences in cell metabolism or energy production. However, the decrease in affected cell mean corpuscular volume and mean corpuscular hemoglobin content may be correlated with the decrease in osmotic fragility in a manner similar to that observed in the hemolytic disorder of beta-thalassemia.

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Myotonic dystrophy with neural involvement

Cited by 34 publications

References 17 publications

Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy

Comparative morphometric evaluation of peripheral nerves and muscle fibers in myotonic dystrophy

Incomplete manifestations of myotonic dystrophy in a large kinship in labrador

Decreased osmotic fragility in heritable canine myopathy

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