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PubMed1991

Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques.

We studied the prevalence of various types of progressive muscular dystrophy (PMD) in Okinawa, Japan on December 31, 1989 and the incidence of Duchenne muscular dystrophy (DMD) in 5-year periods from 1957 to 1985. We classified patients with PMD clinically, electrophysiologically, molecular biologically and immunohistochemically with antidystrophin antibody, especially for sporadic cases of DMD, Becker muscular dystrophy (BMD) and limb-girdle muscular dystrophy (LG). The prevalence for all PMD in Okinawa was 7.13 X 10(-5) for DMD, 1.82 X 10(-5) for BMD in the male population, 1.55 X 10(-5) for LG, 1.14 X 10(-5) for congenital muscular dystrophy, 2.03 X 10(-5) for facioscapulohumeral muscular dystrophy (FSH), and 9.13 X 10(-5) for myotonic dystrophy (MD) in the total population. The incidence of DMD in the period 1957-1985 was 15.41 X 10(-5) live-born males (LBM) and 3.21 X 10(-5) LBM for BMD. The incidence has apparently declined in Okinawa since 1975. The prevalence of BMD, FSH and MD was rather high in Okinawa compared with previous reports. Molecular biological techniques for classifying patients were indispensable for the epidemiological study of PMD.

Cross-Cultural Comparison↗

PubMedDate not supplied

Progressive muscular dystrophy--Duchenne type. Controversies of the kinesitherapy treatment.

The authors carried out a study of children with progressive muscular dystrophy of Duchenne type (DMD), giving special attention to physiatrical follow-up, having in mind that the practice of exercises has been debated very much in the specialized literature. The goal of this study is to try to settle the limits for the utilization of kinesitherapy which should be applied only in specific situations, such as: after skeletal muscular trauma or when the respiratory system is at risk. In this situation the physiatrical procedure would be to restrict physical activity, with early use of wheelchairs and the exclusion of the use of orthoses for orthostatism. DMD, at present, has been considered a result of duplication (60%), deletion (5 to 6%) or point mutations at gen Xp21 (Zatz, 1994), that codifies a protein called Dystrophin (Hoffman et al., 1987). Dystrophin is a cytoskeletal sarcolemmic protein that constitutes about .002% of the total protein of the muscle, present in skeletal fibers concentrated in muscle tendinous joints, which supplies mechanical reinforcement to the surface of the membrane during stretching and shortening physical activity. This protein is absent in DMD cases, wherefore, the sarcolemma undergoes a segmentary necrosis losing its contractile property during eccentric and concentric physical activity. The importance of physiatrical follow-up for DMD patients is to avoid deformities and tendon shortening, to ameliorate the patient's quality of life, to provide respiratory assistance and general counseling to members of the patient's family. The objective of this study is to try to clarify the risks and possibilities of kinesitherapy applied to DMD cases.

Child↗

PubMed1981

Long-term rehabilitation in advanced stage of childhood onset, rapidly progressive muscular dystrophy.

The most common cause of death in patients with rapidly progressive neuromuscular disease has been respiratory failure. The medical community and society as a whole have not yet recognized the possibilities for markedly extended life expectancy and prolonged productivity in severely disabled neuromuscular patients with proper medical management and rehabilitation. In a population of 120 patients with early childhood onset, rapidly progressive muscular dystrophy, 29 were in the most advanced stage requiring mechanical ventilation 24 hr/day and had vital capacities of less than 10% predicted for age and height. Of these patients with severely weakened bulbar innervated muscles, 10 have been receiving positive pressure ventilation via indwelling tracheostomy tubes for an average of 3 years. The average age of the 29 patients is 27 years with a range of 15 to 54 years. Of the 29 patients, 24 live in the community. Three are married and have a total of 5 children. Some patients are in professional careers, or active in political and community organizations. The management of and potential for improved quality of life and increased longevity in these patients are discussed.

Adolescent↗

PubMed1988

Brown adipose tissue in Duchenne's progressive muscular dystrophy.

Both granular and multiocular periadrenal brown adipose tissue (BAT) was present in 16 patients with Duchenne's progressive muscular dystrophy (PMD). In 12 cases (75%), diffusely distributed periadrenal BAT was observed. The common cause of death was respiratory failure, and blood gas level showed marked hypoxia. Scattered myocardial fibrosis was seen in all cases of PMD. We suspected that chronic hypoxia and cardiac fibrosis might be largely responsible for BAT transformation in patients with PMD.

Adipose Tissue, Brown↗

PubMedDate not supplied

Serum cytoplasmic and mitochondrial aspartate aminotransferase in Duchenne's progressive muscular dystrophy.

The activities of cytoplasmic and mitochondrial aspartate aminotransferase isoforms in serum in 20 outpatients with Duchenne's progressive muscular dystrophy and seven carriers of the gene of that disease were determined. The control group consisted of 19 patients with other neuromuscular disorders. Twenty, age-matched healthy persons comprised the normal control group. The activity of the cytoplasmic isoform was increased in 85% of Duchenne's dystrophy cases. In these cases the reaction of the cytoplasmic isoenzyme in the presence of pyridoxal 5'-phosphate was abnormal. In the remaining Duchenne's dystrophy cases normal activity of this isoform and normal stimulation to pyridoxal 5'-phosphate was found. The mitochondrial isoform was significantly increased in 30% of Duchenne's dystrophy cases. In all Duchenne's dystrophy patients the reaction of the mitochondrial isoenzyme to supplementation with pyridoxal 5'-phosphate was normal. We conclude that the evaluation of aspartate aminotransferase isoforms in serum in Duchenne's dystrophy can be of clinical importance, especially in evaluating the degree of muscle cell damage.

Aspartate Aminotransferases↗

PubMed1998

Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development.

The developmental expression pattern of four human genes, three of which are involved in progressive muscular dystrophies, was investigated. The rationale for these experiments is that these patterns might provide useful information on the pathophysiology underlying these myopathies. Despite the presence of overlapping clinical signs, the spatiotemporal expression profiles of the corresponding genes differed widely. Transcripts of alpha-sarcoglycan (SGCA) were visible as soon as myotomes were formed, and constitute, together with titin transcripts, precocious muscular system landmarks. beta-sarcoglycan (SGCB) was initially transcribed in a ubiquitous manner, and, toward the second part of the embryonic period, became specific to striated muscle, heart, and the central nervous system. Whereas titin (TTN) transcription and translation seem to be coupled, for the sarcoglycans, translation seemed restricted to skeletal muscle. Calpain3 (CAPN3) RNA was found in only skeletal muscles during the fetal period. It was, however, present earlier in the whole heart, where it selectively disappeared. Finally, evidence for differentially spliced calpain3 variants in smooth muscles was also seen. The expression profiles of these genes is suggestive of their having a role during myogenesis, knowledge of which could be pertinent to the understanding of the pathophysiology of the associated diseases.

Adult↗

PubMed1988

Myoglobinuria in hereditary progressive muscular dystrophies.

Myoglobin (Mb) levels in pooled urine samples were investigated and compared in patients with different types of hereditary progressive muscular dystrophies (MD). The samples were taken before and after physical exercise. The Mb levels in the patients were significantly higher than in controls under both resting and exercise conditions. The formation of separate clusters of Mb values enabled us to distinguish patients with different types of MD according to the clinical diagnosis. Urine protein detection with SDS-acrylamide electrophoresis showed an abnormal pattern in patients compared to healthy controls.

Adolescent↗

PubMed1986

[Progressive muscular dystrophy of the Duchenne type].

A case of sudden death is reported that occurred as a result of Duchenne type progressive muscular dystrophy with extreme myogenic changes. These changes consisted of extensive muscular lipomatous transformation, typical of the advanced stage of the disease. The heart showed myocardial fibrosis, the respiratory system acute tracheobronchitis with early signs of bronchopneumonia. The pattern of distribution of the changes in the musculature is discussed with regard to the sudden death as well as to the possibility that medical malpractice may have occurred.

Adult↗

PubMed1983

[Evoked potentials of the somatosensory system in patients with progressive muscular dystrophies].

A study of evoked potentials at various levels of the somatosensory system in 90 patients with primary and secondary progressive muscular dystrophies (PMD) was carried out. The detected superficial changes in primary PMD (myopathies) at the clinical stages of the disease seem to be of a secondary nature induced by the myodystrophic process itself. The presented electrophysiological methods are contemporary and highly informative. They allow researchers to evaluate the condition of various levels of the somatosensory system and may be used for purposes of the differential diagnosis.

Adolescent↗

PubMed1986

Ovine congenital progressive muscular dystrophy: clinical syndrome and distribution of lesions.

The distribution and severity of lesions in the skeletal muscles of 37 Merino sheep with congenital progressive muscular dystrophy (CPMD) are described. An explanation for the clinical signs is offered on the basis of functional defects in regional muscle groups. Lesions in the extensors of the hip, stifle and hock joints and flexors of the digits are primarily responsible for the progressive abnormality of hind limb gait that is characteristic of the clinical syndrome. Lesions in extensors of the elbow and flexors of the shoulder, carpus and digits affected fore limb function in advanced cases. The tendency for some affected sheep to develop ruminal tympany is probably caused by lesions in the diaphragmatic crus. Clinically affected sheep had higher resting and post-exercise concentrations of serum creatine phosphokinase and lactic dehydrogenase than unaffected control sheep. The rise in serum creatine phosphokinase after exercise was greater in affected sheep than in controls. Myotonia was not demonstrated in electromyographic studies in one sheep.

Animals↗

PubMed1987

Serum activity of C1 inactivator in Duchenne-type progressive muscular dystrophy.

We previously found that the level of the immunoreactive activity of C1 inactivator in the plasma Duchenne-type patients with progressive muscular dystrophy was lower than that in normal boys. Therefore, we investigated the level of the C1 inactivator inhibiting activity against C1 esterase in the serum from PMD patients. The mean level of anti-esterase activity of C1 inactivator against C1 esterase in the serum from PMD was 50% lower than that of the control group (P less than 0.05).

Adolescent↗

PubMed1982

Lymphocyte capping: a diagnostic method in progressive muscular dystrophy?

Recent observations indicate that antibody-induced redistribution ("capping") of membrane antigens of B-lymphocytes is subnormal in patients with progressive muscular dystrophy. The present study was primarily designed to verify or refute claims that such an abnormally low capping capacity can be used to diagnose this disease group. In eight dystrophy patients we found the median capping to be reduced to 40%, while it was 52% in 27 neurological control patients, and 62% in 20 healthy blood donors. However, there was considerable overlap between the capping percentages of the three groups. Thus, our data indicate that the demonstration of reduced lymphocyte capping in the individual patient is of little, if any, diagnostic value.

Female↗

PubMed1978

Experimental progressive muscular dystrophy and its treatment with high doses anabolizing agents.

We are still a long way from discovering an unequivocal pathogenetic interpretation of progressive muscular dystrophy in man. Noteworthy efforts have been made in the experimental field; a recessive autosomic form found in the mouse seems to bear the closest resemblance to the human form from the genetic point of view. Myopathy due to lack of vitamin E and myopathy induced by certain viruses have much in common anatomically and pathologically with the human form. The authors induced myodystrophy in the rat by giving it a diet lacking in vitamin E. The pharmacological characteristics of vitamin E and the degenerative changes brought about by its deficiency, especially in the muscles, are illustrated. It is thus confirmed that the histological characteristics of myopathic rat muscle induced experimentally are extraordinarily similar to those of human myopathy as confirmed during biopsies performed at the Orthopaedic Traumatological Centre, Florence. The encouraging results obtained in various authoratative departments in myopathic patients by using anabolizing steroids have encouraged the authors to investigate the beneficial effects of one anabolizing agent (Dianabol, CIBA) at high doses in rats rendered myopathic by a diet deficient in vitamin E. In this way they obtained appreciable changes in body weight (increased from 50 to 70 g after forty days at a dose of 5 mg per day of anabolizing agent), but most of all they found histological changes due to "regenerative" changes in the muscle tissue, which however maintained its myopathic characteristics in the control animals that were not treated with the anabolizing agent. The authors conclude by affirming the undoubted efficacy of the anabolizing steroids in experimental myopathic disease, but they have reservations as to the transfer of the results into the human field, where high dosage cannot be carried out continuously because of the effects of the drug on virility; because the tissue injury too often occurs at an irreversible stage vis-a-vis the "regeneration" of the muscle tissue; and finally because the dystrophic injurious agent is certainly not the lack of vitamin E but something as yet unknown.

Anabolic Agents↗

PubMed1990

[Cardiomyopathy in progressive muscular dystrophy].

A dilated cardiomyopathy with clear signs of left-ventricular functional abnormalities occurred in a 21-year-old man with known Duchenne's progressive muscular dystrophy. Echocardiography and magnetic resonance imaging delineated the regional disorder of ventricular wall motion and defined its segmental extent. With neither method was it possible to analyse texture with demonstration of differential regional involvement. As a noninvasive method echocardiography is suitable for diagnosing Duchenne's cardiomyopathy and monitoring its progression.

Adult↗

PubMed1990

Plasma levels of atrial natriuretic peptide in patients with Duchenne's progressive muscular dystrophy.

To study the relationship between plasma alpha-atrial natriuretic peptide (alpha-ANP) and cardiac function in patients with Duchenne's progressive muscular dystrophy (DMD), we measured plasma alpha-ANP levels in 51 patients with DMD and evaluated them according to the clinical severity of the disease and the echocardiographic left ventricular function. In many of the patients with DMD, plasma alpha-ANP levels were mildly elevated, but no clear correlation was observed between alpha-ANP levels and wall motion abnormalities of the left ventricle. The alpha-ANP level was moderately or markedly elevated (81 to 120 pg/ml) in 3 of the 16 patients with respiratory failure and extremely high (1208 pg/ml) in the one patient with congestive heart failure. Two patients with respiratory failure and one with congestive heart failure, in whom alpha-ANP levels were elevated, died within 2 months. Elevation of left atrial pressure as a result of left ventricular dysfunction caused by impairment of the myocardium and elevation of right atrial pressure as a result of pulmonary hypertension caused by impairment of the respiratory muscles are considered to be involved in the mechanism of increased plasma alpha-ANP levels in patients with DMD. It can be concluded that a moderate or marked elevation in plasma alpha-ANP levels in patients with terminal DMD is a sign of a poor prognosis and may be a useful index for the management of the disease.

Adolescent↗

PubMed1985

Plasma plasmin inhibitors in Duchenne-type progressive muscular dystrophy.

In our previous research, we found that the level of the plasminogen activity in the plasma from Duchenne-type patients with progressive muscular dystrophy was higher than of the normal boys, though the level of the plasmin inhibitors was lower. Therefore, in the present study, we investigated the differences in the fractions of plasmin inhibitors. The subjects were nine patients (the average age being 17.1 years) who had been diagnosed, by clinical and biochemical tests, as having PMD; serving as controls were normal boys (the average age being 15 years), the patients' mothers, and the mothers of the normal boys. The plasmin inhibitors were separated from plasma using lysine-Sepharose columns according to the method of Urita et al. The determination was performed based on the method of Aoyagi et al. and an immunoreactive assay. The results were as follows: (1) No significant differences were seen between patients with PMD and control subjects with respect to either alpha 1-antichymotrypsin, antithrombin III, and alpha 1-antitrypsin or alpha 2-macroglobulin and inter-alpha-trypsin inhibitors. These results suggested that the low level of plasmin inhibitors in patients was due to the low activity of the C1 inactivator. (2) The patients with PMD showed lower values than the normal boys in the levels of C1 inactivator in plasma; similarly, the mothers of these patients showed lower values than the normal mothers.

Adolescent↗

PubMed1992

A 10-year follow-up study by orthogonal Frank lead ECG on patients with progressive muscular dystrophy of the Duchenne type.

A 10-year follow-up study by orthogonal Frank lead electrocardiography was performed on 25 patients with progressive muscular dystrophy of the Duchenne type (DMD). With advancing age, no apparent changes were observed in the duration and amplitude of the P wave or in the PR interval, whereas the duration of the QRS complex tended to increase. The amplitudes of the R wave in lead X (Rx) and lead Y (Ry) tended to decrease from 1.75 +/- 0.90 and 1.96 +/- 0.59 mV to 0.80 +/- 0.63 and 1.39 +/- 0.62 mV (p < 0.01), whereas the amplitude of the S wave in lead X tended to increase from 0.24 +/- 0.23 mV to 0.53 +/- 0.36 mV in 10 years after initiation of the study (p < 0.01). It is noteworthy that the Ry amplitude began to decrease markedly from the seventh year after the initiation of this study, whereas the Rx amplitude showed a gradual and unceasing decline through the 10-year period. Observation of the sequential changes of the QRS loops in three planes clearly demonstrated that the electrical force tended to decrease in the leftward and inferior directions and increase in the rightward direction. It is of interest that the frequency of occurrence of the deep Q wave was found to be quite high even in the early stages of DMD and that it did not display a direct relation to the sequential evolution of this disease. It can be concluded that observation of the sequential changes in the QRS complex allows estimation of the extent and direction of myocardial involvement in DMD.

Adolescent↗

PubMed1979

Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy.

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.

Adolescent↗