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PubMed2000

[Diagnosis of muscular disease].

Diagnostic evaluation of muscle disease has gained considerably from the expanding development in molecular science in the last decade. This paper gives an overview of current diagnostic procedures in the evaluation of patients with muscle disease. The role of the clinical examination, genetic and serological tests, neurophysiological examination, muscle imaging, muscle histology and exercise tests for the diagnosis of muscle disease are discussed.

Biopsy↗
PubMedDate not supplied

[Changes in glycogen metabolism in hereditary muscular diseases (review)].

Impairments of glycogen metabolism in muscles, which occurred in some types of the glycogen storage disease as well as in hereditary diseases of unestablished biochemical nature are reviewed. Hereditary diseases of animals caused by impairment of glycogen metabolism are considered.

Adult↗
PubMed1971

Genetic approaches to the nosology of muscular disease: myotonias and similar diseases.

Besides myotonic dystrophy some generalized myotonias exist, until now mostly diagnosed as "Thomsen's disease." It is questionable whether the dominant "myotonia congenita" is homogeneous. Surely there is at least one recessive type of generalized myotonia, which is also clinically different from Thomsen's disease. Paramyotonia congenita Eulenburg is a genetically independent type separated from paralysis periodica paramyotonia. Further diseases with myotonia and some other diseases of differential disgnostic importance with regard to myotonias are mentioned

Adult↗
PubMed1993

[Cardiac involvement in certain muscular diseases. Apropos of 216 cases].

Myopathy may be associated with very variable cardiac involvement, the expression of which is related to the type of neuromuscular disease and also to the individual. This retrospective study, performed between 1986 and 1991, was undertaken to determine the prevalence of cardiac involvement in myopathy. A total of 216 subjects with an average age of 34 years were reviewed by clinical examination, ECG, echocardiography and Holter ECG monitoring. Some patients also underwent complementary radionuclide (scintigraphy, angiography) and electrophysiological investigations. The results confirmed cardiac disease in over a half of patients. Although 3/4 of the patients were asymptomatic from the cardiac point of view at the time of evaluation, the severity of certain lesions led to a number of specific therapeutic interventions. This suggests that simple, non-invasive cardiac diagnostic procedures should be undertaken systematically in the early stages of myopathic disease.

Adolescent↗
PubMed1999

[Ion-channel related muscular diseases].

INTRODUCTION: Though ion channel-related muscular disorders were described long ago, better understanding of their underlying mechanisms has been more recently achieved. These mechanisms include myotonic syndromes that may be caused by mutations in sodium and chloride channels, as well as periodic paralysis which is due to mutations in sodium and calcium channels. CURRENT KNOWLEDGE AND KEY POINTS: Knowledge of the involved pathophysiological mechanisms has led to better clinical description of these disorders, as well as more efficacious treatment. In some cases, it is now possible to establish the diagnosis, using genetic tests. FUTURE PROSPECTS AND PROJECTS: Other neuromuscular disorders might be related to ion channel mutations.

Acetazolamide↗