Adult mitochondrial myopathy

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Mitochondrial diseases are caused by defects in mitochondria, which are energy factories found inside almost all the cells in the body. A typical human cell relies on hundreds of mitochondria to meet its energy needs. The symptoms of mitochondrial disease vary, because a person can have a unique mixture of healthy and defective mitochondria, with a unique distribution in the body.

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Stay Up to Date! Mitochondrial disease in adults is a complicated disorder to diagnose. This, coupled with the fact that it is not a well-known disorder, makes diagnosis a long and difficult task.

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Several thousand mitochondria are in nearly every cell in the body. Their job is to process oxygen and convert substances from the foods we eat into energy. Mitochondria produce 90 percent of the energy our body needs to function.

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Primary mitochondrial myopathies PMM are a group of disorders that are associated with changes in genetic material e. Mitochondria, found by the hundreds within every cell of the body, regulate the production of cellular energy and carry the genetic blueprints for this process within their own unique DNA mtDNA. These disorders often hamper the ability of affected cells to break down food and oxygen and produce energy.

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Sometimes these diseases can cause significant weakness in the muscles that support breathing. Sometimes, mitochondrial diseases directly affect the heart. In these cases, the usual cause is an interruption in the rhythmic beating of the heart, called conduction block.

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Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age.

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In a recent article published in Acta Neuropathologica Communicationsa team of researchers from the University of California San Francisco reported a case of a patient with a rapid progressive adult onset scoliosis due to late-onset axial myopathy associated with multiple somatic mtDNA abnormalities but without chronic myopathic features typically observed in primary axial myopathies. Based on results of the case outcomes the researchers suggested that the case demonstrates that adult spinal deformity may be secondary to a previously undiagnosed neuromuscular pathology and that primary axial myopathy can be due to an apparently isolated mitochondrial myopathy. Since adolescence, the patient had a history of stable scoliosis that got progressively worse at age of 65, leading to low back pain and radiculopathy.

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Symptoms may be acute or chronic with intermittent decompensation. In childhood-onset disease, there is often a history of global developmental delay, while in adulthood the past history may be unremarkable prior to initial presentation. The unique character of mitochondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic counseling challenging. Tissue specificity and mitochondrial heteroplasmy may result in a spectrum of phenotypes even within a single family with the same molecular defect.

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Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria—small, energy-producing structures that serve as the cells' "power plants. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures.

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The information was provided by The Lily Foundationa charity dedicated to funding research, raising awareness and supporting families affected by Mitochondrial Disease. The information is for purely educational purposes. It does not constitute medical advice.

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