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Mitochondrial disease can manifest in many different ways [1] whether in children [2] or adults. [3] Examples of mitochondrial diseases include: Mitochondrial myopathy [2] [3] Maternally inherited diabetes mellitus and deafness (MIDD) [4] While diabetes mellitus and deafness can be found together for other reasons, at an early age this ...
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body. The exception is mature erythrocytes (red blood cells), so that they do not use up the oxygen that they carry.
Pages in category "Mitochondrial diseases" The following 25 pages are in this category, out of 25 total. This list may not reflect recent changes. ...
Mitochondrial encephalopathy is an umbrella term encompassing a variety of disorder that all result from disruptions in mitochondrial function. An overwhelming majority of genes that play a role in mitochondrial function are present within the nuclear DNA, with the remainder (13 proteins, 22 tRNAs, and 2 rRNAs) being encoded by the ...
Mitochondrial neurogastrointestinal encephalopathy syndrome; Mitral valve prolapse; Mittelschmerz; Mohr–Tranebjærg syndrome; MOMO syndrome; Monofixation syndrome; MonoMAC; Morgagni Stewart Morel syndrome; MORM syndrome; Morquio syndrome; Morvan's syndrome; Mouth and genital ulcers with inflamed cartilage syndrome; Mowat–Wilson syndrome ...
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 ...
As indicated by the name, MIDD is characterized by diabetes and sensorineural hearing loss. [2] Some individuals also experience more systemic symptoms including eye, muscle, brain, kidney, heart, and gastrointestinal abnormalities, similar to other mitochondrial diseases. [4] [5] [6]