Metabolic myopathy associated with a PNPLA2 gene mutation
DOI:
https://doi.org/10.67667/NEU.v27i2.241Keywords:
Metabolic myopathy, PNPLA2 gene, substratesAbstract
Metabolic myopathies represent heterogeneous group of genetically determined disorders that can occur at any age.
They are characterized by defects in biochemical pathways related to the storage, metabolism, and utilization of substrates required for the generation of muscular energy. Dysfunction of skeletal, cardiac, and smooth muscles, as well as involvement of the central nervous system and the endocrine system, contributes to the diverse manifestations of metabolic myopathies. (4)
The main symptoms of metabolic myopathies include myalgia, muscle cramps, exercise intolerance, as well as non-progressive or progressive muscle weakness affecting the pelvic, scapular, axial musculature and the muscles of the limbs. (6)
We present a clinical case of a woman with a genetically confirmed diagnosis of metabolic myopathy due to a mutation in the PNPLA2 gene, leading to the development of a myopathic syndrome and hepatic steatosis.
References
1. Adler, M., Perry, B., et al. Metabolic Myopathies. 2015, 35, 385–397.
2. Angelini, C., Marozzo, R., Pegoraro, V., Saccon, S. Diagnostic challenges in metabolic myopathies. Expert Rev Neurother. 2020, 20, 1287–1298.
3. Al Shehri, A., Al-Asmi, A., Al Salti, A.M., Almadani, A., Hassan, A., Bamaga, A.K., Cupler, E.J., Al-Hashel, J., Alabdali, M.M., Alanazy, M.H., et al. A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed from an Expert Group Meeting. J. Neuromuscul. Dis. 2022, 9, 661–673.
4. Lilleker, B.J., Keh, Y.S., Roncaroli, F., Sharma, R., Roberts, M. Metabolic myopathies: a practical approach. 2018, 18, 14–26.
5. Tarnopolsky, M.A. Metabolic Myopathies. Contin Lifelong Learn Neurol. 2016, 2, 1829–1851.
6. Toscano, A., Barca, E., Musumeci, O. Update on diagnostics of metabolic myopathies. Curr Opin Neurol. 2017, 30, 553–562.
7. Urtizberea, A.J., Severa, G., Malfatti, E. Metabolic Myopathies in the Era of Next-Generation Sequencing. 2023, 22, 14, 954.
8. Zutt, R., van der Kooi, A., Linthorst, G., Wanders, R., de Visser, M. Rhabdomyolysis: Review of the literature. Neuromuscul Disord. 2014, 24, 651–659.
