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In medicine, myopathy is a disease of the muscle [1] in which the muscle fibers do not function properly. Myopathy means muscle disease (Greek : myo- muscle + patheia -pathy : suffering). This meaning implies that the primary defect is within the muscle, as opposed to the nerves ("neuropathies" or "neurogenic" disorders) or elsewhere (e.g., the ...
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate (), the chemical used to provide energy for the cell, cannot be produced sufficiently by oxidative phosphorylation when the mitochondrion is either damaged or missing necessary enzymes or transport proteins.
Statin-associated autoimmune myopathy (SAAM), also known as anti-HMGCR myopathy, is a very rare form of muscle damage caused by the immune system in people who take statin medications. [1] However, there are cases of SAAM in patients who have not taken statin medication, and this can be explained by the exposure to natural sources of statin ...
Inflammatory myopathy, also known as idiopathic inflammatory myopathy (IIM), is disease featuring muscle weakness, inflammation of muscles , and in some types, muscle pain . The cause of much inflammatory myopathy is unknown ( idiopathic ), and such cases are classified according to their symptoms and signs , electromyography , MRI , and ...
Metabolic myopathies are myopathies that result from defects in biochemical metabolism that primarily affect muscle. They are generally genetic defects ( inborn errors of metabolism ) that interfere with the ability to create energy, causing a low ATP reservoir within the muscle cell.
Common types of myopathy due to statins include myalgia, myositis, and rhabdomyolysis. Statins induce myopathy by inhibiting protein synthesis within the muscle. [6] Statin therapy tends to not show any histopathological differences, and thus a biopsy does not reveal too much about the damage. Often, the damage is found within the mitochondria. [1]
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD), now more commonly referred to as multisystem proteinopathy (MSP), is an autosomal dominant condition caused by mutations in VCP, HNRPA2B1 or HNRNPA1; it is a multisystem degenerative disorder that can affect muscle, bone, and/or the central nervous system.
Nemaline myopathy is caused by mutations in one of at least 11 different genes. [2] [12] Nemaline myopathy is a clinically and genetically heterogeneous disorder and both autosomal dominant and autosomal recessive forms can occur. Diagnosis is made based upon clinical signs such as muscle weakness, absent or low deep tendon reflexes ...