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Tissue Triage and Freezing for Models of Skeletal Muscle Disease
Published on: July 15, 2014
Metabolic myopathies: a guide and update for clinicians
Marian L Burr1, Jonathan C Roos, Andrew J K Ostör
1Arthritis Research Campaign (arc)-Epidemiology Unit, Stopford Building, The University of Manchester, Manchester, UK.
Current Opinion in Rheumatology
|October 24, 2008
Summary
Metabolic myopathies are rare but serious muscle diseases. Advances in genetic understanding and treatments like enzyme replacement offer hope for better patient outcomes and management.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Metabolic myopathies encompass a group of rare, disabling, and potentially life-threatening muscle disorders.
- Growing awareness highlights their variable clinical presentations and underlying genetic and biochemical abnormalities.
Purpose of the Study:
- To review the clinical features of metabolic muscle diseases.
- To summarize recent advances in their investigation and treatment for a nonspecialist audience.
Main Methods:
- Review of clinical features, diagnostic approaches, and therapeutic strategies.
- Highlighting salient examples to illustrate characteristic features and diagnostic challenges.
Main Results:
- Elucidation of numerous genetic and biochemical defects, with ongoing discovery of novel enzyme deficiencies.
- Significant progress in disease management, including nationwide neonatal screening via tandem mass spectrometry.
- Successful enzyme replacement therapy for Pompe disease and advancements in gene therapy models.
Conclusions:
- Metabolic myopathies, though individually rare, collectively represent a significant health concern.
- Timely investigation, treatment, and genetic counseling are crucial for mitigating disease consequences.
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