Inherited metabolic myopathies: Current diagnosis and treatment approaches Kalıtsal metabolik miyopatiler: Güncel tanı ve tedavi yaklaşımları
Medical Journal of Bakirkoy, cilt.17, sa.2, ss.108-114, 2021 (ESCI, Scopus, TRDizin)
- Yayın Türü: Makale / Derleme
- Cilt numarası: 17 Sayı: 2
- Basım Tarihi: 2021
- Doi Numarası: 10.4274/bmj.galenos.2021.57804
- Dergi Adı: Medical Journal of Bakirkoy
- Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.108-114
- Anahtar Kelimeler: Inherited metabolic myopathy, diagnosis, treatment
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Inherited metabolic myopathies (IMMs) are a heterogeneous group of diseases characterized by inherited defects of enzymatic pathways involved in muscle cell energy metabolism. The worldwide incidence of genetic myopathies is about 1/3500, but the incidence of IMMs is unknown. Although it is considered rare compared with other hereditary myopathies, the expansion of neonatal screening programs and the increase in next-generation sequencing genetic methods for diagnosis have shown that the frequency is above the predicted rate. IMM is summarized as the name given to the group that includes defects in glycogen catabolism (glycogenolysis and glycolysis), fatty acid oxidation, Krebs cycle, or mitochondrial respiratory chain and oxidative phosphorylations. They have a broad clinical spectrum that can present symptoms of different severity at any stage of their lifetime. It differs from other myopathies in that they have unique clinical findings. Hence, it requires specific laboratory diagnostic methods and has specific treatments. This review aims to make the differential diagnosis of metabolic myopathies from other structural myopathies and present current diagnosis and treatment approaches.