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Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells .
Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure to thrive, pancreatic fibrosis with insulin-dependent diabetes and exocrine pancreatic deficiency, muscle and neurologic impairment, and, frequently, early death. It is usually fatal in infancy.
Ongoing research continues to explore potential therapies aimed at increasing frataxin levels, protecting mitochondria, and addressing the genetic cause of the disease. Although life expectancy may be reduced, particularly due to cardiac complications, advancements in care and treatment have improved outcomes for many individuals with ...
MELAS is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. [4]
This is one factor involved in the presentation of mitochondrial diseases. [citation needed] There are other factors involved in the manifestation of a mitochondrial disease besides the size and location of a mutation. Mitochondria replicate during each cell division during gestation and throughout life.
MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy . [ 1 ] MERRF syndrome affects different parts of the body, particularly the muscles and nervous system . [ 2 ]
The "healthspan-lifespan gap" was largest in the U.S., as Americans live in poor health for an average of 12.4 years, compared to 10.9 years in 2000.
Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...