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PubMed1987

Spontaneous primary myopathies in domestic mammals: a review.

By reviewing the literature concerning primary myopathies in man and animals, a classification of spontaneous primary myopathies in domestic mammals is made. This classification is based on aetiological factors. Primary myopathies are divided into metabolic, immunologic, toxic, nutritional, congenital, inherited, and inflammatory myopathies. Muscular dystrophies, in accordance with the definition in human cases, are considered as a separate entity. In the description of the different muscle disorders the emphasis is on the structural changes and the pathogenesis. Clinical signs and diagnostic criteria are considered only briefly.

Animals↗
PubMed2002

Deficiency of a 180-kDa extracellular matrix protein in Fukuyama type congenital muscular dystrophy skeletal muscle.

Abnormalities of the proteins constituting the extracellular matrix have been shown to play important roles in the molecular pathogenesis of muscular dystrophies. In the present study, we have established a monoclonal antibody against a human skeletal muscle extracellular matrix protein. The antibody M1 recognized a single 180-kDa protein (p180) by immunoblot analysis of normal human skeletal muscle and gave a strong and continuous signal along the sarcolemma by immunohistochemical analysis. Furthermore, p180 could be solubilized either under a strong alkaline condition, or in the presence of EDTA or detergents such as Triton X-100, indicating that p180 was an extracellular matrix protein. Interestingly, p180 was deficient in the skeletal muscle of the patients with Fukuyama-type congenital muscular dystrophy (FCMD), but not other muscular diseases, by both immunohistochemical and immunoblot analyses. We presume that the deficiency of p180 in FCMD is caused specifically by the primary deficiency of fukutin, the causative protein of FCMD, and plays an important role in muscle cell degeneration in this disease.

Animals↗
PubMed2005

Creatine kinase MB (CK-MB) in benign paroxysmal vertigo of childhood: a new diagnostic marker.

OBJECTIVES: To evaluate the relation between creatine kinase-MB (CK-MB) and benign paroxysmal vertigo in childhood (BPV). STUDY DESIGN: We prospectively evaluated and followed serum CK-MB in 22 children with BPV diagnosed between 1998 and 2003. RESULTS: The average age of debut for BPV was 1.7 years, and follow-up time was 2.8 years. The CK-MB values were elevated in all children. CK-MB values were persistently increased (mean, 6.0 microg/L) during the study period and were not related to duration of BPV, time since last attack, or frequency of attacks. CK-MB became normal in 7 children who recovered during the study period. After the initial increased CK-MB value, CK, aspartate aminotransferase, and cardiac troponin I (in 16 children) were measured as markers of muscular disease. CK was slightly increased in 7 (31.8%) and aspartate aminotransferase in 14 (63.6%) of the children. Cardiac troponin I was normal in all children. CONCLUSIONS: In this study, serum CK-MB levels were associated with BPV. These findings indicate a possible muscular involvement in BPV. Further studies will be needed to determine if CK-MB is useful as a diagnostic test for BPV.

Biomarkers↗
PubMed1992

Proximal spinal muscular atrophy (SMA) types II and III in the same sibship are not caused by different alleles at the SMA locus on 5q.

Proximal spinal muscular atrophy (SMA) is a group of progressive muscular diseases recently mapped to chromosome 5q. SMA is usually classified into types I-III, and there are cases of two types of SMA in the same sibship. Becker and others later proposed that these sibships might be due to the existence of several alleles at the same locus predisposing to the different forms of the disease. In a sample of four sibships in which both SMA type II and SMA type III occur, this hypothesis was clearly rejected for the SMA locus on 5q, by using information on the segregation of linked markers (P less than .001). Thus the difference between SMA type II and SMA type III is not due to different alleles at the SMA locus on 5q. This finding is suggestive of an involvement of other factors, genetic or environmental, in the determination of disease severity in SMA.

Alleles↗
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↗
PubMed1996

Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography.

Fifteen persons from two consecutive generations of one family affected with facio-scapulo-humeral muscular dystrophy (FSHD) were clinically and neurophysiologically examined. Diagnostic muscle biopsies were obtained from two members. Linkage analysis showed that all four affected members of the family inherit the same 4q35 haplotype giving a lod score of z = +1.44. Six family members were examined by ECG at rest and under stress, by two-dimensional echocardiography, and by cardiac Thallium-201 single-photon-emission computed tomography (Tl-201-SPECT) under dobutamine stress and at rest. Abnormal reduced Tl-201 uptake in cardiac SPECT was only found in the affected members of the family. Therefore we suggest that cardiac Tl-201-SPECT abnormalities in FSHD reflect cardiomyogenic changes in this type of muscular disease.

Adult↗
PubMed1979

The natural history of conduction system disease in myotonic muscular dystrophy as determined by serial electrophysiologic studies.

To evaluate the progression of conduction system disease in myotonic muscular dystrophy, nine patients underwent serial electrophysiologic studies at a mean of 35 months apart. At the initial study, seven patients had first-degree atrioventricular block and three of these seven had disease in the His-Purkinje system (HV greater than 55 msec). At the second study, seven patients had prolonged HV intervals, and during the almost 3-year period, HV intervals increased by at least 5 msec in all seven patients. No electrophysiologic or electrocardiographic measures could be found that correlated with progression of conduction disease in these patients. Because of the failure of electrophysiologic measures to predict progression of conduction disease in these patients, electrophysiologic studies are recommended only for symptomatic patients. If significant disease is found in either impulse formation or conduction, permanent pacemaker therapy is warranted.

Adult↗
PubMed1979

The one-point method in predicting dosage regimen in case of hepatic and/or renal failure in presence or absence of change in volume of distribution.

In some clinical situations such as in acute myocardial or coronary infarction, liver disease, renal failure, hypoalbuminemia, displacement from protein binding, etc., both the volume of distribution and the elimination rate may change. The determination of the creatinine clearance may be too time consuming, and the serum creatinine concentration may be an unreliable indicator in some cases (acute renal failure, uremia, muscular diseases, old age, etc). Neither indicates change in elimination by extrarenal routes (metabolism in liver disease). The "repeated one-point method" is presented as clinical tool to calculate the dosage regimen for patients where differences in Vd and kel can be expected. The method is based on the evaluation of one blood sample each in the first two dosing intervals after administration of a test dose. The "repeated one-point method" is compared with the previously published "one-point method."

Creatinine↗
PubMed1993

A knowledge based interpretation system for EMG abnormalities.

The conventional method of diagnosis in electromyography is complex and time consuming, not only due to the large number of parameters, to be considered for diagnosis, but also because of the usual procedure of evaluating the different parameters of EMG signal by visual scanning of the plotted signal. So there is a clear need to make use of computer aided decision support system. In the present work an attempt has been made in the direction of integration into one automated system, the qualitative knowledge of the physician, with possibly sophisticated signal analysis tools which must replace the visual scanning. A software program (in Turbo-C) on a PC-AT has been developed to evaluate the different parameters of MUAP's (motor unit action potential) in a EMG signal. Then an Expert system (in Turbo-Prolog) has been implemented for diagnostic purposes of different muscular abnormalities by making a knowledge base from the different parameters involved in the decision making procedure of clinical electromyography. A hybrid model of rule and frame based Expert system is implemented. An attempt has been made for making a complete system, i.e., for recording, analysis and decision making for diagnosis.

Diagnosis, Computer-Assisted↗
PubMed1976

"Satellite potentials" and the duration of motor unit potentials in normal, neuropathic and myopathic muscles.

Time-locked activity in the EMG was studied in normal, neuropathic and myopathic muscles, using the averaging technique. Normal and neuropathic muscles seemed in most cases not to differ with regard to the frequency nor the quality of "satellite signals", i.e. small and short potentials joining the main component of the MUP with a constant interval, up to 26 ms in duration. In normal muscles 10% of the MUPs and in neuropathic muscles 12% had a satellite, which, when studied, showed no signs of blocking. However, in 2 patients with an apparent old spinal affection both an increased number and an increased latency of satellite signals were found. In the different myopathies studied 45% of the MUPs recorded consecutively were preceded or followed by an often increased number of tiny satellites. Sometimes the satellites joining the myopathic MUP formed a long (up to 60 ms) "tail" after the triggering component. On the basis of our results we conclude that in myopathies the total duration of MUPs is in certain cases pathologically incrased rather than decreased.

Adolescent↗