MELAS syndrome, which stands for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes, is a complex genetic disorder that primarily affects the brain and muscles. The symptoms can be quite varied and often begin in childhood or early adulthood, although they…
Leigh syndrome is a severe neurological disorder caused primarily by defects in the mitochondria, the energy-producing structures within cells. These defects disrupt the ability of cells to generate energy efficiently, especially in the brain and nervous system, leading to progressive…
Mitochondrial myopathy is a group of disorders caused by dysfunctional mitochondria, the tiny powerhouses inside cells responsible for producing energy. When mitochondria fail to work properly, cells, especially muscle cells, cannot generate enough energy, leading to a wide range of…
CPT2 deficiency is caused by mutations in the CPT2 gene, which encodes the enzyme carnitine palmitoyltransferase II. This enzyme plays a critical role in the process of breaking down long-chain fatty acids into energy within the mitochondria, the energy-producing structures…
Carnitine deficiency disorder occurs when the body lacks enough carnitine, a vital nutrient that helps transport fatty acids into the mitochondria of cells, where they are burned for energy. Without sufficient carnitine, the body struggles to convert fat into usable…
McArdle disease is caused by a genetic mutation that leads to a deficiency or absence of an enzyme called muscle glycogen phosphorylase, also known as myophosphorylase. This enzyme is crucial for breaking down glycogen stored in muscle cells into glucose-1-phosphate,…
Rhabdomyolysis treatment focuses primarily on preventing kidney damage and managing complications caused by the breakdown of muscle tissue. The mainstay of treatment is **aggressive intravenous (IV) fluid administration**, usually isotonic saline, to maintain high urine output and flush out harmful…
Sarcopenia is primarily caused by a complex interplay of biological, lifestyle, and environmental factors that lead to the progressive loss of skeletal muscle mass and strength. At its core, sarcopenia results from the gradual decline in muscle tissue quality and…
Necrotizing myopathy is a rare and serious muscle disease characterized primarily by muscle cell death (necrosis) without significant inflammation. The symptoms mainly revolve around progressive muscle weakness and related functional impairments. The most prominent symptom is **progressive, symmetrical muscle weakness**,…
Eosinophilic fasciitis is a rare condition characterized by inflammation and thickening of the fascia, which is the connective tissue layer beneath the skin that surrounds muscles, blood vessels, and nerves. The exact cause of eosinophilic fasciitis remains unclear, but it…