[Myocyte sarcolemmal and cytoskeleton proteins in inherited muscular diseases].
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STUDY DESIGN: This study analyzed computed tomographic scans, magnetic resonance images, and biopsies of the paravertebral muscles of patients with camptocormia and age-matched patients with lumbar interapophyseal osteoarthritis or lumbar vertebral stenosis. OBJECTIVES: To define the muscular lesions and clarify their nature in this particular disorder. SUMMARY OF BACKGROUND DATA: Progressive lumbar kyphosis or camptocormia, a rare disease of the elderly characterized by inability to immobilize the lumbar spine in relation to the pelvis appears to be a result of weakness of the paraspinal muscles. The features presented by these patients do not correspond to any myopathy previously described. METHODS: Twenty-seven patients (5 men and 22 women) mean age 69 years, with camptocormia were compared to fifteen age-matched patients without camptocormia but with posterior interapophyseal osteoarthritis and to nine elderly patients operated for narrowing of lumbar canal. Computed tomographic scans, magnetic resonance images, light microscopy, histochemistry, and electron microscopy of paraspinal muscles were obtained in both groups. RESULTS: In patients with camptocormia, computed tomographic scans and magnetic resonance imaging showed heterogeneous appearance of the spinal muscles with areas of low density. These features were distinct from those of patients with interapophyseal osteoarthritis and were similar to the features described in primary muscular dystrophies. The main microscopic change in camptocormia was the increase of fibrous tissue, frequently with a lobular pattern, not seen in osteoarthritic patients. Familial history of the disorder was frequent (20 out of the 27 patients). CONCLUSION: Camptocormia, disappearing in the recumbent position, is thus very probably linked to muscle involvement. That there is often a family history of such disorder is in favor of a genetically transmitted condition. Magnetic resonance images and computed tomographic scan appearance seems to be in favor of primary muscular disease, restricted to the spinal muscles.
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Forty-nine patients with various systemic muscle diseases were examined by MR using a 1 Tesla magnet and the appearances of different conditions are analysed. Emphasis was placed on the analysis of patients with progressive muscular dystrophies, myositis, myotonia dystrophica and other muscle diseases. The investigation was begun in March 1984 and was continued until September 1985. Certain characteristic patterns of selectively involved muscles could be recognised. The pattern corresponds to our present understanding of the early phases of muscle diseases, whether inflammatory or due to fatty degeneration. The T1 and T2 relaxation times in various patients were quantified and changes in the normal pattern were analysed. Attention is drawn to the value of MR when carrying out a biopsy and for treatment of muscle diseases.
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A comparison is made between xeroradiography and traditional radiography in 43 patients suffering from myopathies in pediatric age. Only eight of the patients had a neurological genesis. Xeroradiography results to be much more useful in the early diagnosis of muscular disorders and in the correct definition of the disease.
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Recent advances in knowledge of muscle diseases has opened new perspectives for clinical trials. Because of the small number of patients available for study and the requirement for homogeneous study groups, multicentric trials must be conducted on a national or international basis. Moreover, because of the variability of clinical course of muscle diseases therapeutic protocols must be preceded by an assessment of the natural history of the disease. Analytic methods available include manual testing, quantitative muscle testing (QMT), functional scales, and evaluation of cardiac and respiratory function. Based on experience acquired with earlier protocols, we present methodologies currently used and the difficulties encountered. We discuss the potential ways for improving therapeutic trials.