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Current Treatment Options in Neurology
Erschienen in: Current Treatment Options in Neurology 11/2017

01.11.2017 | Neuromuscular Disorders (C Fournier, Section Editor)

Treatment Opportunities in Patients With Metabolic Myopathies

verfasst von: Mette Cathrine Ørngreen, MD, John Vissing, MD

Erschienen in: Current Treatment Options in Neurology | Ausgabe 11/2017

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Abstract

Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure.
Purpose of review In this review, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described.
Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options. Enzyme replacement therapy with rGAA has revolutionized treatment of early onset Pompe disease. Supplements of riboflavin, carnitine, and sucrose show promise in patients with respectively riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, and McArdle disease. Treatment with citric acid cycle intermediates supply by triheptanoin seems promising in patients with glucogenoses, and studies are ongoing in patients with McArdle disease.
Summary Treatment of metabolic myopathies primarily relies on avoiding precipitating factors and dietary supplements that bypass the metabolic block. Only a few of the used supplements are validated, and further studies are needed to define efficacious treatments. Further potential treatment targets are molecular therapies aimed at enzyme correction, such as chaperone therapy, gene therapy, gene expression therapy, and enzyme replacement therapies.
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Metadaten
Titel
Treatment Opportunities in Patients With Metabolic Myopathies
verfasst von
Mette Cathrine Ørngreen, MD
John Vissing, MD
Publikationsdatum
01.11.2017
Verlag
Springer US
Erschienen in
Current Treatment Options in Neurology / Ausgabe 11/2017
Print ISSN: 1092-8480
Elektronische ISSN: 1534-3138
DOI
https://doi.org/10.1007/s11940-017-0473-2

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