Pregledni rad
https://doi.org/10.26800/LV-146-supl1-26
Metabolic myopathies
Danijela Petković Ramadža
orcid.org/0000-0002-8562-153X
*
Tamara Žigman
Ivo Barić
* Dopisni autor.
Sažetak
Metabolic myopathies encompass a group of inborn errors of metabolism that cause muscle dysfunction and damage. The main pathological mechanism for most disorders is impaired energy production, resulting in reduced energy delivery needed for muscle fiber contractions and membrane integrity maintenance. This is especially important during periods of high energy demands, such as high-intensity muscle work, prolonged muscle activity, exposure to cold, fasting, infections, and fever. Symptoms are variable, depending on the underlying disorder, type of muscle activity, and environmental factors, but most patients present with myalgia, exercise intolerance, muscle weakness, or recurrent rhabdomyolysis. An important biochemical feature of metabolic myopathies is high creatine kinase, although not always present. Some patients have chronic weakness and others only have episodic symptoms. Understanding muscle metabolism helps distinguish differential diagnosis based on patient history, clinical features, and creatine kinase activity. Diagnostic workflow can be quite complex
as there are overlapping features with other inherited and acquired muscle diseases. Therefore, to establish a precise diagnosis one needs to consider all clinical, biochemical, and genetic findings. As there are numerous disorders, some of which can be diagnosed only by gene analysis, next-generation sequencing has a crucial role
in diagnostics. Specific therapy is available for some diseases, but most disorders lack etiological treatment. Still, by dietary modifications, adjustments of muscle activity, and avoiding predisposing factors, it is possible to alleviate symptoms and avoid severe complications. Early recognition and proper treatment of patients prone to rhabdomyolysis, which is a life-threatening condition, is essential for patient outcome.
Ključne riječi
MYOPATHY; MYOGLOBINURIA; CREATINE KINASE; RHABDOMYOLYSIS; INBORN ERRORS OF METABOLISM
Hrčak ID:
315852
URI
Datum izdavanja:
11.4.2024.
Posjeta: 917 *