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PubMed1981

[Reducing body myopathy--ultrastructure and classification (author's transl)].

Reducing body myopathy is a very rare progressive muscular disease. Apart from a non-specific circumscribed muscle fiber degeneration it displays muscle fiber inclusions which have reducing properties as a typical morphological feature. The nosological classification of the disease is not settled. A case in a 15 years old girl is reported. She suffered from a progressive muscular weakness and atrophy and in a muscle biopsy regressive changes were obvious. Furthermore, multiple eosinophilic muscle fiber inclusions were also observed, which exhibited reducing properties. They consist of electron dense granules with a diameter of 12--16 nm. Since a sister of the patient has suffered for many years from a clinically and morphologically similar muscle disease, reducing body myopathy apparently belongs to the group of congenital myopathies with structural abnormalities. Muscle fiber inclusions with reducing properties also occur in another myopathy, in which they structural and histochemical differ widely from those found in reducing body myopathy. The reducing body myopathy is better named after its typical morphological property, the granular inclusions. It is proposed to name it "granular body myopathy".

Adolescent↗
PubMed1989

Hyperestrogenemia in neuromuscular diseases.

In order to elucidate the relationship between certain neuromuscular diseases and gonadal hormones, we measured the levels of serum estrogens and other sex-related hormones. The values were compared with those for age-matched controls. The cases, comprising bulbospinal muscular disease of the Kennedy-Alter-Sung type, Kugelberg-Welander disease, amyotrophic lateral sclerosis, and Duchenne muscular dystrophy, were all euthyroid males. The baseline levels of serum estrone were significantly higher in all of the patients than in age-matched normal subjects. Serum baseline testosterone, LH and FSH levels were all essentially normal, except low FSH levels in Duchenne muscular dystrophy. Since our patients had no overweight, liver or glandular abnormalities, we presume that the elevated serum estrone levels have resulted from increased peripheral androgen-to-estrogen conversion.

Adolescent↗
PubMed1995

Inspiratory muscle training during treatment with corticosteroids in humans.

In a previous study performed by us, functional alterations in the inspiratory muscles were evaluated in patients receiving corticosteroids for diseases other than respiratory. We have shown that patients who received high-dose steroids for several weeks developed inspiratory muscle weakness that was reversible following withdrawal of the drug treatment. The present study was designed to evaluate the ability of specific inspiratory muscle training (SIMT) to prevent the effects of a therapeutic dosage of corticosteroids on inspiratory muscle function in patients receiving the drug for diseases other than pulmonary, with no underlying respiratory or muscular disease. Twelve patients, 5 men and 7 women, with ages ranging from 19 to 41 years, who received corticosteroids for diseases other than respiratory were recruited into two groups: 6 patients were assigned to the control group and got sham training and 6 patients received SIMT while receiving corticosteroids in a single-blind group-comparative trial. In both groups, there was no difference between the post-treatment and pretreatment values as regard to the FEV1/FVC relationship. However, in the control group but not in the training group, there was a small but significant decrease, from 99.2 +/- 3.0 to 94.3 +/- 2.8 (mean +/- SEM, p < 0.01) in FEV1 (percent of predicted normal values) and from 103.5 +/- 4.0 to 88.7 +/- 3.1 (p < 0.001) in the FVC, following treatment. All subjects had normal inspiratory muscle strength, as expressed by the maximal inspiratory mouth pressure (PImax) at residual volume, and inspiratory muscle endurance as expressed by the relationship between peak pressure and the PImax before treatment. Following administration of corticosteroids, there was a gradual decrease in both inspiratory muscle strength (from 117.5 +/- 9.4 to 80.5 +/- 3.3 cm H2O, p < 0.005) and endurance (from 82.7 +/- 2.6 to 40.2 +/- 1.7%, p < 0.001) in the control group. On the contrary, despite corticosteroid therapy, there were no significant changes in the inspiratory muscle function in the patients whose inspiratory muscles were specifically trained. We conclude that corticosteroids have a significant deteriorating effect on respiratory muscle function in humans. This weakness is preventable by using SIMT during corticosteroid treatment.

Adrenal Cortex Hormones↗
PubMed1995

[Dystrophinopathies].

In 1987 a new concept in the X-linked muscular dystrophies was born with the identification of dystrophin, a cytoskeletal protein responsible for several muscular diseases previously grouped as Duchenne's or Becker's muscular dystrophies (DMD and BMD, respectively). Under the new concept these entities are referred to as dystrophinopathies. The discovery of dystrophin was made possible when polymerase chain reaction and reverse genetics opened the door to DNA examination. The DMD/BMD gene was located and sequenced and the protein product, dystrophin, was fully identified. The genetic study of dystrophinopathies was extended in the 1990's to include DNA analysis aimed at 1) discovering points of deletion or mutation that give rise to Xp21 myopathies, as dystrophinopathies are also known; 2) identifying the rules of protein translation (interruption or reading "signals" of the protein's genetic code), and 3) identifying atypical clinical phenotypes that can be diagnosed on a molecular level using anti-dystrophin antibodies or DNA probes.

Chromosome Aberrations↗
PubMed1996

Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy.

Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic symptoms progressed, and he died of pneumonia at 24 years of age. No clinical manifestations of Fabry disease were observed except for hypohidrosis and angiokeratoma. However, glycolipid accumulation was found in biopsied renal tissue. Molecular analysis demonstrated two gene mutations; a novel single-base deletion in exon 3 of the alpha-galactosidase gene, and a dystrophin gene deletion extending from exon 46 to exon 50. His mother was confirmed to be heterozygous for both gene deletions.

Adult↗
PubMed1999

Laparoscopic myotomy in achalasia: intraoperative evidence for myotomy of the gastric cardia.

The myotomy performed for achalasia of the esophagus should divide all of the constricting, diseased muscular elements that obstruct the esophagogastric junction (EGJ). Whether the disease process includes proximal gastric as well as esophageal components is as yet unclear, but anatomic evidence complemented by clinical data suggest that the disease process does not end at the evanescent and poorly defined EGJ. Clinical reports from enthusiastic proponents of a particular operative approach for achalasia have not been illuminating in this regard, because all patients are improved to some degree post-operatively, and there are no objective parametric standards for the evaluation of swallowing function. This study reports a series of patients in whom endoscopic viewing was used to judge the adequacy of myotomy after 'esophageal' myotomy. The question posed by this study was, 'Does esophageal myotomy remove all constricting elements at the gastroesophageal junction?' Laparoscopic myotomy was performed in 48 patients with a diagnosis of achalasia; these patients are the most recent in a total cohort of 72 patients operated upon for achalasia during the past 20 years. Myotomy was begun on the esophagus, and extended to the esophagogastric junction; anatomic landmarks, including the appearance of submucosal veins, guided the initial dissection. Intraoperative endoscopy was then performed to determine whether there was residual constriction of the channel between the esophagus and stomach; if so, myotomy was extended onto the gastric cardia until visual evidence of obstruction had disappeared. All patients had either Toupet fundoplication or Dor fundoplication after myotomy. There were obvious constricting elements distal to the gastroesophageal junction in 90% of the patients. These patients required extension of the myotomy onto the stomach for an average of 15 mm. All but one patient had improved swallowing post-operatively. Eight patients required 'stretch' of the distal esophagus/cardia within the first year post-operatively; one patient was reoperated for fibrous scar obstruction of the distal esophagus. Esophageal myotomy limited to the esophageal muscle does not remove all constricting elements at the gastroesophageal junction; as a result, the extended myotomy must be complemented by an antireflux procedure during operations for achalasia.

Cardia↗
PubMed1977

[Pathogenesis of creatinuria and aminoaciduria in neuromuscular diseases].

By introducing inhibitors of phosphodiestherase and adenylacyclase the authors studied the role of cyclic AMP in the pathogenesis of creatinuria and aminoaciduria in neuro-muscular diseases. It was demonstrated that in patients with Duchenne myopathy creatinuria and aminoaciduria were possibly due to a deop of nucleotide level in the muscles. And on the contrary in cases of Erb's and Landouzy-Dejerine myopathy the changes of nitrogen metabolism are due to an increased content of cyclic AMP. These data may be used for differential diagnosis of myopathy.

Adolescent↗
PubMed1990

[Neuromuscular diseases and respiratory insufficiency in newborn infants].

Myopathological examinations which served to gain information on the potential impact of neuromuscular disease on the syndrome of perinatal respiratory failure included 47 consecutively deceased premature infants and neonates. A definite muscular disease could not be safety diagnosed in any case. However, only a very small number of investigations and data on the initial (possibly prenatal) manifestations have been available up to now. We found a total of 11 cases with increased intrafibrillary fat deposits coupled with mitochondrial aggregations in three cases. In seven cases, we found a retarded maturation ranging from three to nine weeks. Focally manifest myopathic changes were recorded in three cases. In one case, a large-group atrophy was found which might indicate the existence of a defect in the region of the second motor neuron. Biochemical backup investigations are necessary to be able to assess the relatively high incidence of increased fat deposits. We consider myopathological examinations of premature infants who died of respiratory failure to be desirable because far more comprehensive studies are necessary to be able to assess the importance of perinatally occurring muscular changes for the diagnosis of neuromuscular diseases.

Humans↗
PubMed1989

Growth in the myopathic Syrian hamster (Cricetus auratus).

The objective was to assess the effect of the hereditary myopathic disease (muscular dystrophy) on 4 growth parameters: body-weight, head-body length, skull weight and cranial length in the Syrian hamster over a 4-13 month period. A control colony of 34 males and 32 females was compared to a muscular dystrophy colony consisting of 37 males and 27 females. The monthly means of the 4 growth parameters were computed and full data were used for computations of analysis of variance with regression of each group, sex and growth parameter. Intersex and intergroup comparisons of the same parameters were made using analysis of covariance. In the controls, the male bodies were heavier and longer than the female bodies; males grew over the total period. In dystrophic hamsters, males were heavier than females, but females were longer. In both control and dystrophic hamsters, female skulls were longer and heavier. In all parameters the means of the control colony were greater than those of the dystrophic colony relative to age. The disease factor in the muscular dystrophy colony adversely influenced all 4 growth parameters.

Animals↗
PubMed1996

Novel autoantibodies against muscle-cell membrane proteins in patients with myositis.

OBJECTIVE: To search for autoantibodies against muscle cell-specific surface membrane antigens in patients with inflammatory myopathies. METHODS: A cell enzyme-linked immunosorbent assay (cell ELISA) using a human rhabdomyosarcoma cell line (TE-671) was developed and performed in serial dilutions with either nonfixed or fixed cells. A total of 141 different patient sera were tested: 90 from patients with various rheumatic diseases, 12 from patients with cardiomyopathies, 25 from patients with other muscular diseases, and 14 from patients who had undergone major surgery or who had other noninflammatory diseases. As controls, 20 sera were obtained from healthy donors. Results were correlated using immunofluorescence staining and flow cytometry. RESULTS: Using the nonfixed cell ELISA, the proportions of positive sera from the patient groups with rheumatic diseases were 71% with polymyositis (PM), 15% with dermatomyositis (DM), 18% with systemic sclerosis (SSc), 15% with systemic lupus erythematosus (SLE), and 7% with rheumatoid arthritis. Sera from healthy donors, as well as sera from patients with nonrheumatic diseases, did not show significant reactivities. When other cell lines, including a chondrosarcoma, a bladder carcinoma, a pancreas carcinoma, and human foreskin fibroblasts, were used as substrates, positive sera did not react in the cell ELISA. Results obtained with the cell ELISA system using nonfixed cells were confirmed by flow cytometry and immunofluorescence staining. A strong protein band of 50 kd was detected on plasma membrane preparations from TE-671 muscle cells in 33% of PM sera (n = 12). CONCLUSION: In most sera from patients with PM, DM, and some other rheumatic diseases (i.e., SSc and SLE), autoantibodies directed against muscle-cell surface antigens can be detected. Since these molecules are localized in the muscle-cell surface membrane, autoantibodies directed against these antigens could play a major role in the pathogenesis of PM.

Adult↗
PubMed1991

[A case of adult-onset nemaline myopathy (adult-onset rod disease) with distal muscular hypertrophy].

We reported a 40-year-old male with adult-onset nemaline myopathy (adult-onset rod disease) showing muscular hypertrophy of distal limbs. At the age of 25, he noticed thinness of his thighs. Difficulty in climbing stairs slowly progressed from the age of 35. On admission neurological examination revealed muscular weakness and atrophy of proximal limbs and hypertrophy of distal flexors. Normal laboratory tests included serum creatine kinase, myoglobin, aldolase and pyruvate. Electromyography revealed severe neurogenic changes in the right biceps brachial muscle and the right quadriceps muscle, and moderate changes in the right gastrocnemius. Biopsy specimen of the deltoid muscle demonstrated type 1 fiber predominance and type 1 fiber atrophy, and there was small group atrophy and type grouping. Abundant nemaline rods were found mainly in type 1 fibers (81.5%). In order to evaluate hypertrophy of calf muscles, T1-weighted MRI of lower extremity was performed. While transaxial images through mid thigh showed moderate fatty replacement, increased volume and little fatty replacement were found in the mid calf. Therefore, hypertrophy of the calf muscle seemed to be compensative hypertrophy. But in this case neurogenic factors were indicated electromyographically and histologically. These findings may advocate the notion that neurogenic factors involved not only congenital but adult-onset rod disease.

Adult↗
PubMed1994

[Anesthesiological risks in neurologic diseases].

For an exact evaluation of the risks of operations it is necessary to assess both co-existing and concomitant diseases before the performance of anaesthesia. The relatively low incidence of neurological and muscular diseases (0.02 to 0.7/1,000) and the low probability of an operation of a patient suffering from these diseases lead to higher anaesthesiological risks during the operation and the perioperative period. The anaesthetist is usually not always aware of all the special pathophysiological problems which have to be taken into consideration when these patients have to be anaesthetized. In order to reduce the risk of anaesthesia of these patients, we discuss the most important of these uncommon neurological diseases regarding their special anaesthesiological management.

Anesthesia, General↗
PubMed2002

Genetic aspects of Labrador Retriever myopathy.

Labrador Retriever myopathy (LRM) has become a relatively common muscular disease. The objective of our prospective study was to determine by segregation analyses a plausible mode of inheritance within a Labrador Retriever population. Therefore we performed neurological examinations, as well as electromyographic and histopathological evaluations of 58 closely related dogs. Seven dogs with an average age of 27.8 months had clinical signs consistent with LRM including exercise intolerance or fatigue. The diagnosis was based on neurological deficits and confirmed by histopathological results of muscle biopsy. We found in all cases obvious differences in fiber calibre size associated with texture disturbances. In addition, we found 41 clinically normal dogs with histological findings consistent with LRM. Three genetic models, the major gene, the mixed inheritance as well as the environmental model, were evaluated by segregation analyses. They were applied to an extended pedigree including 164 non-randomly ascertained related Labradors. According to phenotype the clinically examined dogs were divided into two different data sets. One data set distinguished between clinically normal and abnormal dogs, the second data set between histopathologically normal and abnormal dogs. We concluded that the clinical form of LRM is transmitted by a major gene and controlled by an autosomal recessive mode of inheritance. Furthermore, for expression of the subclinical form an additional gene or an environmental factor is responsible. Our findings suggest that LRM is similar to limb-girdle muscular dystrophy in man and therefore, may be used in the future as an animal model.

Animals↗
PubMed2004

Prednisone reduces muscle degeneration in dystrophin-deficient Caenorhabditis elegans.

Duchenne muscular dystrophy is a degenerative muscular disease caused by mutations in the dystrophin gene. There is no curative treatment against Duchenne muscular dystrophy. In several countries, the steroid prednisone (or analogs) is prescribed as a palliative treatment. In the model animal Caenorhabditis elegans, mutations of the dys-1 dystrophin-like gene lead to a muscular degenerative phenotype when they are associated with a mild MyoD mutation. This cheap and fast-growing model of dystrophinopathy may be used to screen for molecules able to slow muscle degeneration. In a blind screen of approximately 100 compounds covering a wide spectrum of targets, we found that prednisone is beneficial to the C. elegans dystrophin-deficient muscles. Prednisone reduces by 40% the number of degenerating cells in this animal. This result is a proof-of-principle for the use of C. elegans as a tool in the search for molecules active against the effects of dystrophin-deficiency. Moreover, since C. elegans is not susceptible to inflammation, this suggests that prednisone exerts a direct effect on muscle survival.

Animals↗
PubMed1999

The diagnostic value of motor evoked potentials.

OBJECTIVE: To assess the diagnostic usefulness of motor evoked potentials (MEPs) and to identify the optimal method for calculating the central conduction time. The test results were evaluated in a prospective study of 1023 neurological patients. METHODS: We evaluated the correlation between clinical and electrophysiological findings, the accuracy, the sensitivity, the percentage of subclinical abnormalities and the false negative rates of MEPs in different neurological disorders. In patients with lower motor neuron involvement, we compared the central conduction time calculated as the difference between the latency of the cortical and magnetic root stimulation responses with that calculated using the F-wave method. RESULTS: The agreement index between electrophysiological and clinical findings was 87%. The overall accuracy of the test was 0.97. The higher sensitivity values were demonstrated in spinal cord disorders (0.85), hereditary spastic paraplegia (0.80) and motor neuron diseases (0.74). The higher percentages of subclinical abnormalities were found in motor neuron disorders (26%) muscular diseases (24%), multiple sclerosis (13.5%) and spinal cord diseases (12.5%). The higher false negative rates were found in sylvian stroke (0.36) and hereditary spastic paraplegia (0.16). Central conduction study using magnetic paravertebral stimulation but not using the F-wave method, resulted in 12% and 10% of false positive values in lower limb multiradiculopathies and in neuropathies, respectively. CONCLUSIONS: MEPs represent a highly accurate diagnostic test. MEP clinical value is maximum in motor neuron, muscle and spinal cord diseases. In patients with lower motor neuron involvement, the gold standard for central conduction determination is the F-wave method.

Adult↗