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Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. [1] Adenosine triphosphate ( ATP ), 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.
Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise. [3] Biallelic pathogenic mutations in the AGK gene, which encodes the acylglycerol kinase enzyme , cause Sengers syndrome. [ 2 ]
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 caused by a deletion in mitochondrial DNA (mtDNA). [3] An mtDNA is genetic material contained in the cellular organelle called the mitochondria. Depending on the tissue type, each cell contains hundreds to thousands of mitochondria. There are 2–10 mtDNA molecules in each mitochondrion.
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]
Treatments used to treat other pathologies causing ophthalmoplegia has not been shown to be effective. [citation needed] Experimental treatment with tetracycline has been used to improve ocular motility in one patient. [11] Coenzyme Q 10 has also been used to treat this condition. [12] However, most neuro-ophthalmologists do not ascribe to any ...
In metabolic myopathies, the EMG is either normal or myopathic, but spontaneous activity is usually absent. [8] An exercise stress test can be used to determine an inappropriate rapid heart rate (sinus tachycardia) response to exercise, which is seen in GSD-V, other glycogenoses, and mitochondrial myopathies.
Myofibrillar myopathy 1 (MFM1) LGMD1D & LGMD2R: 601419: DES: Distal weakness and significant cardiac involvement Not yet given new nomenclature: LGMD1H: 613530: unknown: 3p23–p25.1 "False linkage" [3] Possibly mitochondrial myopathy [27] Pompe disease (Glycogen storage disease type 2) LGMD2V 232300: GAA: Known disease entity, histological changes