This book, Volume 306 in the series Progress in Clinical and Biological Research, is the record of the Fifth Inernational Clinical Genetics Seminar held in Crete, October 1988. Over 60 contributors from all over the world participated in this conference, and their individual papers comprise the volume. Six sections include the following topics: muscular dystrophies, spinal muscular atrophies, m...

Myopathies that occur in the intensive care unit can be divided into preexisting myopathies or newly acquired myopathies that develop in the intensive care unit. Myotonic dystrophy is an example of a preexisting myopathy that may render patients susceptible to acute respiratory failure following surgical procedures and anaesthesia. A group of myopathies that develop within the intensive care un...

Mitochondrial respiratory chain (RC) deficiency is among the most common causes of inherited metabolic disease, but its physiological consequences are poorly characterized. We studied the skeletal muscle gene expression profiles of mice with late-onset mitochondrial myopathy. These animals express a dominant patient mutation in the mitochondrial replicative helicase Twinkle, leading to accumula...

The prevalence of congenital myopathies in the United States has not been examined. To address this, we determined the point prevalence of congenital myopathies in a well-defined pediatric population from Southeastern Michigan. The overall point prevalence was 1:26,000. Mutations in RYR1 were the most common cause of congenital myopathies at 1:90,000. Our data broadly agrees with estimates from...

Cancer can occur in patients with inflammatory myopathies. This association is mainly observed in dermatomyositis, and myositis-specific antibodies have allowed us to delineate patients at an increased risk. Malignancy is also reported in patients with necrotizing autoimmune myopathies, but the risk remains elusive. Anti-signal recognition particle or anti-HMGCR antibodies have been specificall...

OBJECTIVES To further examine the role of proteolytic enzyme expression of matrix metalloproteinases (MMP) and T-cell markers in inflammatory myopathies and controls. MATERIAL AND METHODS We studied the expression of MMP-2, MMP-7, and MMP-9 in 19 cases of inflammatory myopathies and controls using immunocytochemistry. RESULTS Inflammatory myopathies showed distinct patterns of up-regulation...

INTRODUCTION To the best of our knowledge, we describe for the first time a patient in whom an unusual metabolic myopathy was identified after failure to respond to curative therapy for a systemic vasculitis, polyarteritis nodosa. We hope this report will heighten awareness of common metabolic myopathies that may present later in life. It also speculates on the potential relationship between me...

Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers, and the levels of patient care are extremely variable. This consensus statement aims to provide care guidelines for congenital myopathies. The In...

Shoulder abduction fatiguability has been measured using a hand held myometer in normal subjects and patients with peripheral neuromuscular diseases. An index of fatiguability was based on the decline in force over a series of ten maximum voluntary contractions performed in under a minute. The technique was repeatable and well tolerated. Patients with myasthenia, mitochondrial myopathy and moto...

Various pathological processes, some genetically determined and others acquired, may Australian affect the function of the skeletal muscles and Neuromuscular may manifest in different ways. Some, such as Research Institute, the congenital myopathies, produce weakness University Departments of and hypotonia at birth whereas others do not Medicine and cause functional abnormalities until child-De...