Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “PROGRESSIVE MUSCULAR DYSTROPHY”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,297 records · Page 72Linked to original sources
PubMed1978

Active state properties of denervated and immobilized muscle: comparison with dystrophic muscle.

Possible roles of neurotrophic mechanisms and muscle activity in the contractile abnormalities of muscular dystrophy were studied by comparing human dystrophic muscle to denervated and immobilized muscle. As evident in denervated muscle from the decreased acceleration of twitch development (decreased active state intensity of shortening), and isoproterenol-induced decrease of twitch with shortened decay of the active state, part of the abnormality in the subcellular calcium transport system in dystrophic muscle seems to be influenced by disordered neural regulation. Other active state abnormalities relating to activation processes and contractile proteins in dystrophic muscle were also demonstrated in both denervated and immobilized muscle, with some being more marked in immobilized muscle. The findings indicate that a neurogenic hypothesis cannot entirely explain the pathogenesis of progressive muscular dystrophy.

Adult↗
PubMed1988

Discordance between growth hormone (GH) responses after GH-releasing hormone and insulin hypoglycemia in myotonic dystrophy.

Plasma GH responses to human GHRH, arginine, L-dopa, and insulin-induced hypoglycemia were determined in seven myotonic dystrophy (MD) patients. An iv bolus injection of GHRH-(1-44)-NH2 (1 microgram/kg BW) only slightly increased plasma GH concentrations in MD patients. The mean peak plasma GH level after GHRH injection [4.2 +/- 0.8 (+/- SE) micrograms/L] was significantly lower than that in 10 age-matched normal subjects (26.7 +/- 4.3 micrograms/L) or that in 6 patients with progressive muscular dystrophy (22.8 +/- 6.6 micrograms/L) whose nutritional status was similar to that of the MD patients. Even with a larger dose of GHRH (3 micrograms/kg BW), the plasma GH rises were minimal in the MD patients (mean peak, 5.9 +/- 1.8 micrograms/L). The plasma GH responses to a 30-min iv infusion of arginine (0.5 g/kg BW) and oral ingestion of L-dopa (0.5 g) were attenuated to a similar extent, whereas insulin-induced hypoglycemia caused a significant increase in plasma GH in all seven MD patients [mean peak, 17.4 +/- 4.1 (+/- SE) microgram/L]. The plasma TSH responses to TRH and plasma insulin-like growth factor I levels were similar in the MD patients and normal subjects. These findings suggest that 1) the impaired GH release after GHRH, arginine, and L-dopa administration in MD patients is not due to somatotroph deficiency, since the GH response to hypoglycemia is well preserved; and 2) insulin-induced hypoglycemia may stimulate GH release at least in part via inhibition of somatostatin release.

Adult↗
PubMedDate not supplied

[Importance of germ cell mosaic for genetic counseling of families with Duchenne and Becker muscular dystrophy].

Germ cell mosaics were demonstrated in Duchenne's and Becker's muscular dystrophy by molecular genetic methods. These findings affect risk estimates in these x-chromosomal muscular diseases. The mutation-selection equilibrium for x-chromosomally lethal inheritance for determining the a priori probability for risk estimate according to the Bayes theorem must therefore be redefined to take the germ cell mosaic problem into account. Taking Duchenne's and Becker's progressive muscular dystrophy as an example, the article explains how the estimation of the heterozygote risk in women seeking advice changes in different family situations.

Bayes Theorem↗
PubMedDate not supplied

Nocturnal nasal intermittent positive pressure ventilation (NIPPV) therapy for chronic respiratory failure: long-term effects.

The development of positive pressure ventilation delivered through a nasal or face mask has greatly expanded the use of non-invasive ventilation in patients with chronic respiratory insufficiency, particularly during sleep. Disorders ranging from neurologic and neuromuscular, such as polio and muscular dystrophy, central alveolar hypoventilation, thoracic cage disorders such as kyphoscoliosis, and pulmonary disorders such as COPD, particularly of the blue-bloater type. The relative hypoventilation that is common to each condition is due to varying combinations of an inadequate respiratory drive and an increase in the work of breathing. Previous studies have shown sustained reversal of awake hypercapnia in patients with alveolar hypoventilation syndrome using nocturnal NIPPV. We analysed 10 consecutive patients with chronic respiratory insufficiency due to diverse aetiologies over a period of time using long-term domiciliary nocturnal NIPPV. Awake hypercapnia and hypoxaemia improved in nine patients over time and deteriorated in one patient. There was no significant change in pulmonary function apart from one patient with progressive muscular dystrophy who deteriorated. A considerable reduction in the need for subsequent hospital admission was noted in the group as a whole following institution of NIPPV. We conclude that nocturnal NIPPV improves awake gas exchange in patients with chronic respiratory failure.

Carbon Dioxide↗
PubMed1985

Congenital muscular dystrophy with severe infantile scoliosis.

A girl with congenital muscular dystrophy with severe scoliosis from birth was presented. No positive family history was obtainable. She developed muscle hypotonia and weakness, and feeding difficulty during the neonatal period. Her developmental milestones were delayed; she learned to walk at the age of 2 years when she walked with a "waddling gait" and stood up with Gowers' maneuver. On physical examination at 2 years old, she had mild proximal dominant muscle weakness and atrophy, and severe scoliosis with a Cobb's angle of 74 degrees but no joint contractures in the extremities. Creatine kinase was slightly elevated. Biopsied muscle showed myopathic changes, including variation in fiber size, moderate fibrous tissue proliferation, some necrotic and regenerating fibers and type 1 fiber predominance, consistent with those seen in chronic progressive muscular dystrophy.

Biopsy↗
PubMed1997

Absence of integrin alpha 7 causes a novel form of muscular dystrophy.

Integrin alpha 7 beta 1 is a specific cellular receptor for the basement membrane protein laminin-1 (refs 1,2), as well as for the laminin isoforms -2 and -4 (ref. 3). The alpha 7 subunit is expressed mainly in skeletal and cardiac muscle and has been suggested to be involved in differentiation and migration processes during myogenesis. Three cytoplasmic and two extracellular splice variants that have been described are developmentally regulated and expressed in different sites in the muscle. In adult muscle, the alpha 7A and alpha 7B subunits are concentrated in myotendinous junctions but can also be detected in neuromuscular junctions and along the sarcolemmal membrane. To study the potential involvement of alpha 7 integrin, during myogenesis and its role in muscle integrity and function, we generated a null allele of the alpha 7 gene (Itga7) in the germline of mice by homologous recombination in embryonic stem (ES) cells. Surprisingly, mice homozygous for the mutation are viable and fertile, indicating that the alpha 7 beta 1 integrin is not essential for myogenesis. However, histological analysis of skeletal muscle revealed typical symptoms of a progressive muscular dystrophy starting soon after birth, but with a distinct variability in different muscle types. The observed histopathological changes strongly indicate an impairment of function of the myotendinous junctions. These findings demonstrate that alpha 7 beta 1 integrin represents an indispensable linkage between the muscle fibre and the extracellular matrix that is independent of the dystrophin-dystroglycan complex-mediated interaction of the cytoskeleton with the muscle basement membrane.

Animals↗
PubMed1999

[Acute respiratory failure due to neuromuscular disorders].

Numerous acute and chronic neuromuscular disorders may induce an acute ventilatory failure. The latter is sometimes triggered by a complication like a bronchial aspiration, a pneumonia, or an atelectasis. The acute ventilatory failure often develops insidiously and may be missed until the terminal event. Four different clinical presentations are depicted in this review: slowly progressive (Duchenne muscular dystrophy), rapidly progressive (Guillain-Barré syndrome), chronic with exacerbations (myasthenia gravis), and a form consecutive to critical care (critical care polyneuropathy and myopathy). For each type of ventilatory failure, the review discusses the preventive surveillance, the treatment of acute respiratory failure, and the long-term management.

Acute Disease↗
PubMed1987

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic myopathy. Several such patients have recently been reported to have cytological deletions of chromosome region Xp21 and/or of DNA markers that map near the locus for Duchenne muscular dystrophy (DMD) in band Xp21. We have examined the initial family reported in the literature and, using prometaphase chromosome studies and Southern blot analysis with 13 different DNA probes derived from band Xp21, have found no deletions within this region of the X chromosome. When DNA samples from six other unrelated affected males were analyzed, four of them were found to have different-size deletions within Xp21. Thus, the form of GKD associated with AH and dystrophic myopathy exhibits significant genetic heterogeneity at the DNA level. No deletions were detected in two patients with isolated GK deficiency. Comparison of our molecular studies of unrelated patients with deletions of DNA segments allows us to define the region of Xp21 (between probes J-Bir and L1.4) that most likely contains the genes for GKD and AH. This location is distal to the DMD locus. The patients with progressive muscular dystrophy tended to have larger deletions that include markers known to derive from the DMD locus, while GKD/AH/dystrophic-myopathy patients without current evidence of deletion seemed to have a milder, nonprogressive form of congenital myopathy.

Abnormalities, Multiple↗
PubMed2000

[A pilot study to establish a support system using SpO2 monitoring system and videoconference system for patients under home mechanical ventilation].

Development of portable ventilators has enabled patients suffering from respiratory failure to live outside hospitals. The number of patients with neuromuscular disorders receiving home mechanical ventilation (HMV) has been increasing year by year. However, Japanese social support services are not sufficient for these patients. Thus, we tried to establish a system to support patients under HMV using SpO2 monitoring system and videoconference system. Pulse oximeter was connected to a portable personal computer, which stores real-time data and send daily data to hospital. The computer in our hospital receives patient's data and prints out it as a trend-graph, which enables medical staffs to know patient's condition. When SpO2 deteriorates significantly, alarm system works automatically to warn patient's family. In case SpO2 worsens more severely, alarm also warns medical staffs in our hospital to call the patient to confirm patient's condition and to give advices. Videoconference system was also introduced to communicate quickly and correctly. Thirty-four patients with progressive muscular dystrophy attended this study after informed consents. They used these systems in the period between discharge and first visit to hospital. Videoconference system was utilized in only two patients, because it required a digital line. These systems were effective in decreasing anxieties of patients and their families about HMV. According to daily check, 16 of 34 patients showed temporary deterioration of respiratory condition, although all patients had been in good condition in hospital. Loosening of the belt of nasal mask, air leak from opened mouth were frequent causes for the deteriorations. These problems could be corrected smoothly after discussion and advices. Thus this system was very useful to establish good respiratory management in a short period. Monitoring system also detected troubles of ventilators. Two patients showed progressive worsening of SpO2 day by day, however we could not find any problems in their respiratory managements. When we checked the ventilator, there were lumps of dust at the upper-pressure limit valves, which caused air leak. It was revealed that 3 of 27 ventilators had the same troubles, which caused leaks more than 10% of the flow volume. This fact proved that this system was also effective to prevent severe troubles from unexpected problems about HMV. Videoconference system enabled us to communicate quickly and correctly. It was also convenient to give advices. It is quite difficult for ordinary people to explain and understand physical condition and methods to handle respirator with only oral communication. Visual communication solved these troubles almost completely. Although there are some problems about this system including high cost and quality of picture, it is undoubtedly powerful tool. It is natural for patients with respiratory failure to wish to stay their home, when they possessed portable respirators. So it is important to decrease the risk related to HMV. We verified that the combination of monitoring system and multimedia can produce effective support system. It is important to improve these systems and cut down the cost for popularization.

Adolescent↗
PubMed2001

Controversies about the function of dystrophin in muscle.

Dystrophin, a product of a gene located at the chromosome Xp21 locus, is a cytoskeletal protein expressed in skeletal, cardiac and smooth muscles, and in the brain, and is located on the inner site of the plasma membrane. Dystrophin in the skeletal muscles is absent or appears only in traces in Duchenne dystrophy, it is reduced with normal/changed molecular weight in Becker dystrophy and it is absent/reduced in mdx mice. It is supposed that dystrophin acts either as a structural scaffold that supports mechanical stress in sarcolemma, or participates in regulating intracellular Ca2+ level. There are also data indicating that dystrophin takes part in force and signal transduction processes, in the aggregation of neurotransmitter receptors, and prevents an excessive generation of reactive oxygen free radical species. The main hypotheses indicate that lack of structural support, an excessive influx of Ca2+ ions into the muscle cell, or a combination of both these mechanisms in dystrophin-deficient muscle fibres, is responsible for muscle pathology in progressive muscular dystrophy. There are arguments supporting these hypotheses. There are, however, also data indicating that the presented arguments are doubtful. Despite recent advances in the knowledge of the pathogenesis of muscular dystrophies and the advent of modern techniques, we are still very far away from understanding what is the real function of dystrophin in muscle.

Animals↗
PubMedDate not supplied

[Genetic cardiac dysrhythmias and the sequelae of heart surgery in children].

Genetic cardiac dysrhythmias, although rare in pediatrics, may be often the first manifestation of the main disease or may determine the vital prognosis in some of these diseases (e. g. Friedreich's ataxia and Duchenne's progressive muscular dystrophy). This is more so, as at present, technical possibilities of implanting pacemakers, at ever smaller ages, are ever so great. The first part of the paper deals with these aspects, reviews, and analyses a large variety of genotypic diseases (metabolism genetic diseases, cardio-skeletal syndromes, neuromuscular diseases, cardio-auditory syndromes, etc.) and also a series of tachydysrhythmias or isolated familial conduction disturbances (blocks). Within each entity, the authors describe the main elements allowing the diagnosis, with special references on the rhythm and cardiac conduction disturbances that may appear, and with the necessary therapeutical considerations. The second part of the material presented is devoted to the cardiac dysrhythmias following the surgical intervention on heart, frequently used at present in the congenital heart diseases, at ever smaller ages due to the special progress in anesthesia and intensive care techniques. Correlation of various types of surgeries with the anatomical lesions of the excitation-conduction system they can involve, makes easier the understanding of the nature and appearance risks of some postsurgical rhythm and cardiac conduction disturbances. The distinction is made between early postsurgical dysrhythmias--that are often episodic--and tardy dysrhythmias that may relapse or become chronic, thus raising difficult treatment problems and sometimes require a secondary pacemaker implantation, given the major handicap they represent for the child.

Arrhythmias, Cardiac↗
PubMed1983

Dystrophy of the diaphragmatic muscles in adult Meuse-Rhine-Yssel cattle: electromyographical and histological findings.

Electromyographic investigation of diaphragmatic muscles of Meuse-Rhine-Yssel cattle revealed a significant decreased duration of action potentials, while the number of polyphasic potentials was increased in four of seven cows. Histologically, the diaphragmatic muscles in all cows were affected severely, as characterized by variation in size of individual fibers, abundant vacuolar and hyaline degeneration with occasional fragmentation and phagocytosis, fiber splitting, apparent increase in internal nuclei, vesicular nuclei, chains of central nuclei, absence of regeneration, and proliferation of endomysial and perimysial connective tissue. Core-like structures seemed to be a hallmark of the disease. The intercostal muscles in all cows had core-like structures and some variation in fiber size; degenerative lesions did occur, but were less severe than in diaphragmatic muscles. In other skeletal muscles and cardiac muscles, core-like structures were present predominantly, indicating a generalized muscle disorder. No lesions were detected in the peripheral or central nervous systems. The muscular alterations were classified as a progressive muscular dystrophy, with a suspicion of hereditary transmission. This dystrophy may be an important animal model.

Animals↗
PubMed1983

[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases].

Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.

Brain↗
PubMed1985

Real-time ultrasonography in neuromuscular problems in children.

Ultrasound imaging of 20 cases of progressive muscular dystrophy and 10 cases of suspected infantile spinal muscular atrophy in children was performed by us, as a double-blind plot study matched against 25 controls. Open muscle biopsy was restricted to the muscular dystrophy group. The ultrasonographic findings were correlated with parameters such as functional disability of muscle and muscle biopsy features in the dystrophy group. It was interesting to observe that the muscle echogram was abnormal in both types of neuromuscular problems, the controls giving a normal muscle echogram. Ultrasonography was helpful in detection of unequivocal changes in our cases with mild clinical disability. It had a close correlation with changes in gross muscle architecture, as seen on muscle biopsy.

Adolescent↗
PubMed2001

Response to high-intensity eccentric muscle contractions in persons with myopathic disease.

Although the response to intense eccentric muscle contractions is well described in normal subjects, concern exists about possible untoward effects in persons with myopathic diseases. We investigated 14 subjects with slowly progressive muscular dystrophies including myotonic muscular dystrophy (n = 9), facioscapulohumeral dystrophy (n = 2), limb-girdle syndrome (n = 2), and Becker muscular dystrophy (n = 1). Control subjects consisted of 18 able-bodied persons. Subjects performed two sets of eight maximal-effort eccentric repetitions of the elbow flexors, with measurement of maximal concentric strength, serum creatine kinase, resting and flexed arm angle, arm circumference, and soreness at days 0, 3, and 7. Although the myopathic group had less initial strength, both groups demonstrated a similar response to the protocol over 7 days. Both groups had a significant rise in serum creatine kinase, which was still elevated at 7 days (P < 0.05). The control group demonstrated a slightly greater injury response in terms of soreness, resting and flexed arm angles, and arm swelling. Both groups of subjects appeared to respond similarly to an acute bout of eccentric contractions. However, the potential long-term effects of this type of exercise in persons with myopathic diseases remains unknown.

Adult↗
PubMed1990

Myopathy in Marinesco-Sjögren syndrome: an ultrastructural study.

Seven muscle biopsies from patients with the clinical characteristics of Marinesco-Sjögren syndrome (MSS) revealed myopathic changes of two types; muscle fiber necrosis followed by regeneration and focal myofibrillar degeneration inducing autophagocytosis with rimmed vacuole formation. In two young patients, massive muscle fiber necrosis with phagocytic invasion was the predominant feature and autophagic phenomenon was minimal, resembling the findings in progressive muscular dystrophy. Myofibrillar degeneration with autophagic phenomenon was prominent in five adult patients. The coexistence of these two degenerative processes and the secondarily induced reactive changes of muscle fiber hypertrophy, interstitial fibrosis, occasional ragged-red fibers and type 1 fiber predominance, are responsible for the wide spectrum of muscle pathology in MSS. The dense double-membrane structure surrounding myonuclei, previously reported as being specific to MSS, was present in only one biopsy.

Adult↗