Unknown

Dataset Information

0

Lipid Myopathies.


ABSTRACT: Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance and muscular weakness. Muscular atrophy is rarely present. Acute muscular exacerbations, resulting in rhabdomyolysis crisis are triggered by several factors. Several classifications of lipid myopathies have been proposed, based on clinical involvement, biochemical defect or histopathological findings. Herein, we propose a full revision of all the main clinical entities of lipid metabolism disorders with a muscle involvement, also including some those disorders of fatty acid oxidation (FAO) with muscular symptoms not included among previous lipid myopathies classifications.

SUBMITTER: Pennisi EM 

PROVIDER: S-EPMC6306737 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature

altmetric image

Publications

Lipid Myopathies.

Pennisi Elena Maria EM   Garibaldi Matteo M   Antonini Giovanni G  

Journal of clinical medicine 20181123 12


Disorders of lipid metabolism affect several tissues, including skeletal and cardiac muscle tissues. Lipid myopathies (LM) are rare multi-systemic diseases, which most often are due to genetic defects. Clinically, LM can have acute or chronic clinical presentation. Disease onset can occur in all ages, from early stages of life to late-adult onset, showing with a wide spectrum of clinical symptoms. Muscular involvement can be fluctuant or stable and can manifest as fatigue, exercise intolerance a  ...[more]

Similar Datasets

| S-EPMC4879869 | biostudies-literature
| S-EPMC8198905 | biostudies-literature
| S-EPMC3052736 | biostudies-literature
| S-EPMC4109660 | biostudies-literature
2023-05-08 | GSE224780 | GEO
| S-EPMC4104537 | biostudies-literature
| S-EPMC3534736 | biostudies-literature
2013-12-01 | GSE48280 | GEO
2013-12-01 | E-GEOD-48280 | biostudies-arrayexpress
| S-EPMC8203237 | biostudies-literature