ALLMedicine™ Metabolic Myopathies Center

Nov 6th, 2021 - Primary mitochondrial myopathies are genetic metabolic disorders of mitochondrial dysfunction affecting mainly, but not exclusively, skeletal muscle. Although individually rare, they are the most common inherited metabolic disorders in childhood. ...

Oct 6th, 2020 - McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in musc...

Sep 18th, 2020 - Metabolic myopathies comprise a clinically etiological diverse group of disorders caused by defects in cellular energy metabolism including the breakdown of carbohydrates and fatty acids, which include glycogen storage diseases and fatty acid oxid...

Feb 18th, 2020 - The idiopathic inflammatory myopathies are a group of heterogeneous autoimmune connective tissue diseases. Despite increase in the understanding of these conditions, securing a timely diagnosis and accurate subtype classification remains difficult...

Dec 4th, 2019 - This article provides an overview of mitochondrial and metabolic biology, the genetic mechanisms causing mitochondrial diseases, the clinical features of mitochondrial diseases, lipid myopathies, and glycogen storage diseases, all with a focus on ...

Oct 6th, 2020 - McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in musc...

Feb 28th, 2019 - Myotonic dystrophies. These are more often type 2 than type 1.