Problems in diagnosing progressive progressive muscular and neuromuscular diseases.
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Humans↗
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[Pregnancy and delivery in a woman with neuromuscular disease. Spinal muscular atrophy and severely reduced pulmonary function].
Pregnancy and delivery are described in a 22-year-old woman suffering from spinal muscular atrophy. In spite of severe respiratory insufficiency with a vital capacity of 0.6 litre, pregnancy and planned caesarean section in general anaesthesia went without complications. Some explanations for this are presented. Teams involving respiratory centres specialized in the treatment of patients with neuromuscular diseases, obstetricians and neurologists are recommended. These teams may carry out individual counselling, frequent controls, respiratory support and planning of delivery.
Adult↗
[Typology of motor unit potentials and muscle fiber density in neuromuscular diseases].
The potentials of muscle motor units were measured in 146 normal subjects, 943 patients with primary muscular diseases, 2114 patients with neuropathy, 887 patients with neuronopathies, and 1057 patients with impaired neuromuscular transmission. Analysis of the findings helped to establish certain types of potentials most frequently registered in various forms of neuromuscular diseases at different stages of the process. A parallelly conducted study (using a microelectrode) of the potentials of individual muscle fibers determined in motor units elicited changes in the nature of the distribution of muscle fibers in motor units, and an increase in their density and also established the role of the readjustment of motor units and compensatory reinnervation in the formation of various types of motor unit potentials.
Diagnosis, Differential↗
Influence of peripheral arterial occlusive disease on muscular metabolism. Part 1: Changes in lactate, ammonia, and hypoxanthine concentration in femoral blood.
The concentrations of lactate, ammonia and hypoxanthine were determined in blood from the femoral artery, femoral vein and cubital vein under resting conditions in 23 patients with stage II, 10 patients and 20 diabetics with stage IV peripheral arterial occlusive disease (PAOD) and in 19 healthy subjects. The metabolite concentrations were also measured immediately and 20 min after calf exercise in the patients with stage II PAOD and in the controls. At rest, there was a negative arteriovenous difference in femoral lactate level and a positive arteriovenous difference in the ammonia level in all groups. After exercise to the claudication limit, the femoral venous concentration and arteriovenous difference for lactate increased in the patient group significantly higher than in the controls, who were exercised three times as heavily. Furthermore, there was a significant rise in femoral venous ammonia concentration with inversion of the arteriovenous difference into the negative range and an increase in femoral venous hypoxanthine concentration only in the patients with PAOD and not in the controls. A significant correlation was found between the exercise-induced increases in lactate and ammonia. The results indicate activation of the purine nucleotide cycle in the muscles of limbs with impaired circulation, even for a short duration of load. This can be explained by activation of the AMP-deaminase in type I and type IIa muscle fibres by anoxaemia. The purine nucleotide cycle has an emergency metabolic function in ischaemia to maintain muscle contractility. Ammonia determination in femoral blood permits, in association with lactate and hypoxanthine determination, a precise quantitative assessment of the metabolic effects of PAOD.(ABSTRACT TRUNCATED AT 250 WORDS)
Aged↗
A decision support system for diagnostic consultation in laboratory tests.
1. INTRODUCTION. In primary care, the appropriate selection of test items is needed for correct diagnosis; it is also needed from the point of view of cost effectiveness. Thus, the Japan Society of Clinical Pathology recommended screening test items in clinical medicine [1]. In this study, we developed a microcomputer-based decision support system using these screening items to guide general medical practitioners to a correct interpretation of the results of laboratory tests. 2. SYSTEM Configuration The current version of the decision support system is designed to be run on PC-9821Bp (486 NEC computer) under the Window 3.0 environment. The input parameters are 26 essential items of laboratory tests, including urinalysis, fecal occult blood, hematological, and biochemical and serological tests recommended by the Japan Society of Clinical Pathology. The support system is composed of two processes. Firstly, the system can output any of the following diagnostic categories: 1) inflammatory disease, 2) muscular or myocardial disease, 3) anemia, 4) malignant tumor, 5) reno-urinary disease, 6) hepatobiliary disease, 7) diabetes mellitus, 8) gastrointestinal disease, 9) bone disease, 10) hyperlipidemia, and 11) normal. In the next step, the system can output some recommendations as to what minimum tests or what maneuver must be done to reconfirm the final diagnosis. The diagnostic part of the program uses decision-tree logic. 3. RESULTS. The subjects were 219 patients who were admitted to the Nagoya University Hospital; the diagnostic categories had been already confirmed. In each diagnostic category, 10-20 cases of infectious disease, 34 of 74 cases of malignant disease, 2 of 6 cases of muscular disease, 14 of 14 cases of anemia, 2 of 16 cases of malignant tumor, 42 of 55 cases of reno-urinary disease, 8 of 14 cases of diabetes mellitus, 9 of 20 cases of gastrointestinal disease, 3 of 26 cases of bone disease, and 14 of 18 cases of hyperlipidemia were correctly diagnosed using the first step of this system. 4. DISCUSSION. This diagnosis supporting system was very efficient for screening anemia, reno-urinary disease, diabetes mellitus, and hyperlipidemia. If this system is combined with information from disease history and physical examination, the diagnosis will be both easy and enhanced. Since the system can suggest effective tests to pinpoint the disease, unnecessary tests will be avoided. Lower diagnostic accuracy was seen in infectious disease, malignant tumor, muscular disease, and bone disease. For these diagnostic categories, additional items are necessary. In conclusion, basic tests are very useful for screening anemia, reno-urinary disease, diabetes mellitus, and hyperlipidemia; the system can provide the minimum and correct test items for diagnosis in primary care.
Clinical Laboratory Techniques↗
Fluoroenzymometric method to measure cardiac troponin I in sera of patients with myocardial infarction.
The aim of our study was to evaluate the clinical relevance of serum troponin I (TnI) as a marker of ischemic myocardial injury by using an automated fluoroenzymometric assay. The reference range for serum TnI was established by measuring serum TnI concentrations in blood from 75 healthy donors. The concentration was then compared with serum creatine kinase (CK) activity, CK-MB mass, and myoglobin concentrations in 20 patients with myocardial infarction diagnosed according to the WHO criteria, 20 patients with chest pain of nonischemic origin, 9 patients with unstable angina, 11 with stable angina, 11 patients with chronic muscular diseases, 6 patients with muscular trauma without chest contusion, and 13 patients with chronic renal disease. We found that: (a) 99% of the blood donors had TnI concentrations <0.26 microgram/L (detection limit of the assay in our study); (b) TnI values in acute myocardial infarction (AMI) patients 4 h after onset of chest pain showed a sensitivity of 0.769 and a specificity of 1.0 at a decisional concentration for AMI of 1 microgram/L, even in the presence of severe skeletal muscle injuries or renal diseases; (c) the increase in TnI concentrations after infarction (interquartile range 3.25-6 h) and the peak occurred later (interquartile range 11.5-24 h) than the rise found in myoglobin and CK-MB, but the increase persisted much longer (>96 h); (d) receiver-operating characteristic curve analysis showed the high diagnostic accuracy of TnI in diagnosing AMI even in patients in whom traditional biochemical markers are adversely influenced by underlying clinical situations.
Aged↗
Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy.
Dystrophin and its associated proteins, the sarcoglycans, are normally expressed in heart and skeletal muscle. Mutations that alter the expression of these membrane-associated proteins lead to muscular dystrophy (MD) and cardiomyopathy in humans. Because of the timing and nature of the accompanying cardiomyopathy, it has been suggested that cardiomyopathy develops as a secondary consequence of skeletal muscle dysfunction in the muscular dystrophies. To determine whether skeletal muscle dystrophy contributes to the development of sarcoglycan-mediated cardiomyopathy, we used mice lacking gamma-sarcoglycan and inserted a transgene that "rescued" gamma-sarcoglycan expression only in skeletal muscle. Gamma-sarcoglycan was expressed in skeletal muscle under the control of the skeletal muscle-specific myosin light chain 1/3 promoter. Gamma-sarcoglycan-null mice expressing this transgene fully restore gamma-sarcoglycan expression. Furthermore, the transgene-rescued mice lack the focal necrosis and membrane permeability defects that are a hallmark of MD. Despite correction of the skeletal muscle disease, focal degeneration and membrane permeability abnormalities persisted in cardiac muscle, and notably persisted in the right ventricle. Therefore, heart and skeletal muscle defects are independent processes in sarcoglycan-mediated muscular dystrophies and, as such, therapy should target both skeletal and cardiac muscle correction to prevent sudden death due to cardiomyopathy in the muscular dystrophies.
Animals↗
[Identification of adhalin gene mutation in limb-girdle muscular dystrophy in Chinese].
OBJECTIVE: Limb-girdle muscular dystrophy (LGMD) is a group of severe genetic heterogeneity muscular diseases characterized by proximal muscular weakness of the pelvis and shoulder, affecting both male and female. This group of diseases involves four gene loci (13q12, 17q21,4q12,5q33). Up till now there is no research report about LGMD in Chinese. This study was intended to identify the pathogenic genes of LGMD in Chinese by mutation detecting. METHODS: The exons 2 and 3 of adhalin gene were analyzed in 13 Chinese LGMD patients and 20 controls by using PCR-SSCP and DNA sequencing. RESULTS: The R77C (Arg77Cys) missense mutation was found at the two alleles of a 9-year-old LGMD girl, which had not been found in the 40 wild type chromosomes. This is the first report on adhalin mutation that exists in LGMD in Chinese. CONCLUSION: Our results suggest that adhalin gene is one of the predisposing genes in LGMD in Chinese.
Child↗
Influence of peripheral arterial occlusive disease on muscular metabolism. Part 2: Changes in pyruvate, alanine, and urea concentration in femoral blood.
The metabolites pyruvate, alanine and urea were determined under resting conditions in blood from the femoral artery, femoral vein and cubital vein of 23 patients with stage II, 10 patients and 20 diabetics with stage IV PAOD as well as 19 healthy volunteers. Measurements were also carried out immediately and 20 min after ergometric calf exercise in the patients with stage II PAOD and the controls. In both patient groups with stage IV PAOD, there were lower arterial and venous alanine levels and higher urea concentrations at rest than in patients with adequate resting circulation, which is evidence for increased hepatic alanine extraction. After exercise, a significantly higher increase in the arteriovenous difference of pyruvate concentration was to be found in the patient group with stage II PAOD than in the control group. Moreover, there was a significant increase in femoral venous concentration and a rise in the arteriovenous difference of alanine, indicating muscular release, only in the PAOD patients and not in the volunteers in spite of a three times higher exercise load. The exercise-induced rise in femoral venous alanine correlated closely with those of pyruvate and ammonia. Alanine formation fulfills the function of a non-toxic carrier of muscularly produced amino groups and represents in PAOD a compensating mechanism that delays the limitation of muscular contractility. Alanine determination, especially in association with an exercise test, appears to be suitable for assessing the extent of anaerobic energy production in muscles of limbs affected by PAOD.
Alanine↗
High-frequency ultrasonography of skeletal muscle in children with neuromuscular disease.
Ultrasonography of the thigh and calf was performed in 24 children who had primary neuromuscular disease and in 20 healthy children. The ultrasound image was clearly abnormal in all patients with progressive muscular dystrophy, and in the majority of children with benign myopathic disorders; the principal changes were increased muscular echogenicity and increased attenuation of ultrasound with a reduced bone surface echo. In 13 patients, the ultrasound findings were correlated with pathologic changes seen in muscle biopsy specimens: a clear correlation (r = .85) was found. Muscular dystrophies had a higher score of abnormal ultrasonographic and microscopic findings, while the more benign muscular diseases had a lower score.
Adolescent↗
Carbohydrate composition of erythrocyte membranes and glycosidase activities in serum in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia.
A number of abnormalities in cell membrane function, including cells other than muscle cells, have been described in patients with inherited muscular diseases such as myotonic dystrophy and congenital myotonia. The basic molecular defects are, however, still unknown. The complex carbohydrates of membrane-bound glycoconjugates are of vital importance for the normal performance of the cell membrane. In this study the concentrations of the three major carbohydrates (sialic acid, galactose and hexosamines) of the erythrocyte membrane were therefore determined in patients with myotonic dystrophy, limb-girdle dystrophy and congenital myotonia. The activities of relevant glycosidases in serum were also assayed. In each of the three diseases pertinent changes of the carbohydrate pattern were found. In patients with myotonic dystrophy the sialic acid and in patients with limb-girdle dystrophy the hexosamine concentration was significantly reduced (P less than 0.0005). The sialic acid, galactose and hexosamine concentrations were all significantly increased in patients with congenital myotonia. No increase of the neuraminidase (sialidase) activity was found in sera from patients with myotonic dystrophy. In patients with limb-girdle dystrophy, the activities of serum hexosaminidases were normal. These results support the contention that certain inherited muscular diseases may represent generalized membrane disorders, and suggests that disturbances of membrane-bound glycoproteins and/or glycolipids might be of importance in the pathogenesis of some of these disorders.
Acetylglucosaminidase↗
Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy.
Data were collected prospectively over a 10-yr period from 53 subjects with facioscapulohumeral muscular dystrophy (FSHD) to provide a profile of impairment and disability. Manual muscle testing (MMT) indicated greater involvement of proximal musculature, although a subgroup demonstrated early weakness of the ankle dorsiflexors. Asymmetry of upper extremity musculature was noted, with greater weakness of selected dominant limb muscle groups. Weakness, in general, was relatively mild, with an overall mean MMT score of 3.7 units. The rate of strength loss was quite slowly progressive, a decline of only -0.22 MMT units per decade of age. An early age of onset was associated with greater likelihood of more severe and progressive weakness. Isometric and isokinetic quantitative strength testing revealed that all muscle groups were 36-68% weaker than a control population. Although nearly 50% of the subjects had vital capacity evidence of restrictive lung disease, only 13% had severe involvement, and only 22% had a history of pulmonary complications. There was no age or disease duration effect on pulmonary function measurements or complications. As with the other neuromuscular diseases, maximal expiratory pressure measurements were more sensitive than other pulmonary function tests. Abnormal electrocardiogram findings were rare and minor and not related to overt cardiac disease. Contractures were rare and mild. Thirty-five percent of the patients had spine deformity; however, most had hyperlordosis. Intellectual function was normal, and there were few abnormalities on personality tests. Functional testing demonstrated wide variation in disability with FSHD, but motor weakness uniformly translated into impaired motor performance skills. This profile demonstrates the clinical heterogeneity of FSHD.
Adult↗
Profiles of neuromuscular diseases. Spinal muscular atrophy.
Forty-five individuals with spinal muscular atrophy (SMA) types II and III were evaluated prospectively over a 10-yr period to develop an impairment and disability profile. SMA II subjects showed marked weakness and progressive decline of strength. Mean manual muscle test (MMT) score for all muscles combined was 2.3 +/- 0.6, with a decline in strength of -0.24 MMT units per decade. SMA III individuals had a relatively static or very slowly progressive course and were far stronger. Mean MMT score for all muscles combined was 3.8 +/- 0.7, and the decline in strength per decade was not significant. In both types proximal weakness was greater than distal, but there was greater involvement of the lower extremities and the extensor muscle groups only in SMA II. Contractures, progressive scoliosis, and restrictive lung disease (RLD) were present in most of the SMA II individuals, but these complications were rare in SMA III. Maximal expiratory pressures were affected earlier and to a greater degree than vital capacity. Seventy-eight percent of those with SMA II had scoliosis with a mean Cobb angle of the primary curve of 62 +/- 37 degrees. Forty-one percent had severe RLD, and 17% had moderate RLD. In both types, 63% had abnormal electrocardiograms although most had minor findings. Timed motor performance and functional evaluations indicated that muscle weakness translated to substantial disability in both SMA II and III, with more severe impairment noted in SMA II. Neither type was associated with abnormal means scores on intellectual and neuropsychologic test batteries.
Adolescent↗
Muscular degeneration in the absence of dystrophin is a calcium-dependent process.
Duchenne muscular dystrophy (DMD) is a progressive degenerative muscular disease that is due to mutations in the dystrophin gene. Neither the function of dystrophin nor the physiopathology of the disease have been clearly established yet. Several groups have reported elevated calcium concentrations in the mdx mouse model of DMD, but the effect of calcium levels on the progression of the disease continues to be a matter of debate. Here, we show that, in Caenorhabditis elegans, a gain-of-function mutation in the egl-19 calcium channel gene dramatically increases muscle degeneration in dystrophin mutants. Conversely, RNAi-mediated inhibition of egl-19 function reduces muscle degeneration by half. Therefore, our results demonstrate that calcium channel activity is a critical factor in the progression of dystrophin-dependent muscle degeneration.
Animals↗
[A brief respite from hospital: home mechanical ventilation for children in Japan].
Children who require prolonged respiratory support often have to spend their whole lives in the hospital. It is important, however, for these children to have time with their families in their own homes. Home mechanical ventilation can make it possible. In Japan, the concept of home mechanical ventilation has just begun to open up. We reported five cases of home mechanical ventilation for children by using a portable respirator (Bennett, Companion 2800). Two cases of these were patients with hypoxic ischemic encephalopathy. The others were cases with neuro-muscular diseases (Werdnig-Hoffmann disease, mitochondrial myopathy, myotubular myopathy). Before taking the patients out, parents received a training in nursing procedures and in skillful use of the ventilator and equipment. The patients went out on excursions 17 times, and were released for home stay a total of 25 times. Initially, 12 excursions were undertaken with doctors or nurses in attendance; later, however, all of the home stays and 5 of the excursions were carried out successfully by the family only. They went to places such as their own home, a park, a zoo, an aquarium and a museum. The average time was 4.6 hours (3-8 hours) for excursions, and 1.8 days (1-7 days) for home stays. Questioning of family revealed that home mechanical ventilation accelerated the social and emotional development of these children whose condition necessitated respiratory support, especially patients with neuro-muscular diseases. It also revealed that family could accept the patient as a member with more familiarity and with more ease.(ABSTRACT TRUNCATED AT 250 WORDS)
Child↗
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
Mutations in the gene encoding the gamma2 subunit of AMP-activated protein kinase (PRKAG2) cause familial cardiac hypertrophy and electrophysiological abnormalities, with glycogen accumulation in the heart of affected patients. The authors describe a 38-year-old man with a new heterozygous PRKAG2 mutation (Ser548Pro) manifesting by hypertrophic cardiomyopathy, severe conduction system abnormalities, and skeletal muscle glycogenosis. Considering those results, PRKAG2 gene could be a potential candidate for unexplained muscle glycogenosis associated with cardiac abnormalities.
AMP-Activated Protein Kinases↗
SPHINCTER INVOLVEMENT IN OCULAR MYOPATHY.
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Anal Canal↗
HYPERLYSINEMIA.
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Amino Acid Metabolism, Inborn Errors↗