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…
Dermatomyositis is a rare inflammatory disease that primarily affects the skin and muscles, showing up with a combination of distinctive skin changes and muscle weakness. The signs can be quite varied but generally fall into two main categories: characteristic skin…
Inclusion body myositis (IBM) is a complex muscle disease characterized by progressive muscle weakness and wasting, primarily affecting older adults. The exact cause of IBM is not fully understood, but it is believed to arise from a combination of immune…
Polymyositis is a rare inflammatory muscle disease characterized primarily by progressive muscle weakness, but its complications can extend far beyond just muscle symptoms. The complications arise both from the direct effects of muscle inflammation and weakness, as well as from…