Search results
Results From The WOW.Com Content Network
Primary mitochondrial myopathies are inherited, while secondary mitochondrial myopathies may be inherited (e.g. Duchenne's muscular dystrophy) [3] or environmental (e.g. alcoholic myopathy [4] [5]). When it is an inherited primary disease, it is one of the metabolic myopathies .
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 combination can be due to mitochondrial disease, as may occur in Kearns–Sayre syndrome and Pearson syndrome [2]
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) is one of the family of mitochondrial diseases, which also include MIDD (maternally inherited diabetes and deafness), MERRF syndrome, and Leber's hereditary optic neuropathy.
Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the mother with variable expressivity due to heteroplasmy. Kearns–Sayre syndrome; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) Myoclonic epilepsy with ragged red fibers (MERRF)
Mitochondrial inheritance. The cause of MERRF disorder is due to mutations in the mitochondrial genome. This means that it is a pathological variant in mtDNA (mitochondrial DNA) and is transmitted by maternal inheritance. Four point mutations in the genome can be identified that are associated with MERRF: m.A8344G, m.T8356C, m.G8361A, and m.G8363A.
Muscular disease can be classified as neuromuscular or musculoskeletal in nature. Different myopathies may be inherited, infectious, non-communicable, or idiopathic (cause unknown). The disease may be isolated to affecting only muscle (pure myopathy), or may be part of a systemic disease as is typical in mitochondrial myopathies.
Apart from diseases caused by abnormalities in mitochondrial DNA, many diseases are suspected to be associated in part by mitochondrial dysfunctions, such as diabetes mellitus, [15] forms of cancer [16] and cardiovascular disease, lactic acidosis, [17] specific forms of myopathy, [18] osteoporosis, [19] Alzheimer's disease, [20] Parkinsons's ...
Brody disease (also known as Brody myopathy) includes symptoms similar to myotonia congenita, including muscle stiffness and cramping after initiating exercise (delayed muscle relaxation). However, it is pseudo- myotonia as those with Brody disease have normal EMG .