mitochondrial myopathy

(redirected from Mitochondrial myopathies)


any disease of a muscle. adj., adj myopath´ic.
centronuclear myopathy myotubular myopathy.
distal myopathy an autosomal dominant form of muscular dystrophy, appearing in two types. The first has onset in infancy, does not progress past adolescence, and is not incapacitating. The second has onset in adulthood and is called late distal hereditary myopathy. Called also distal muscular dystrophy.
glycolytic myopathy any metabolic myopathy resulting from a defect of glycolytic enzyme activity, marked by exercise intolerance and cramping, the accumulation of glycogen in muscle, and recurrent myoglobinuria.
late distal hereditary myopathy distal myopathy that sets in usually after age 40, does not affect life span and first affects the small muscles of the hands and feet and then spreads proximally.
metabolic myopathy myopathy due to disordered metabolism, usually caused by genetic defects or hormonal dysfunction.
mitochondrial myopathy any of a group of myopathies associated with an increased number of enlarged, often abnormal, mitochondria in muscle fibers, manifested by exercise intolerance, generalized weakness, lactic acidosis, infantile tetraparesis, ophthalmoplegia, and cardiac abnormalities.
myotubular myopathy a form marked by myofibers resembling the myotubules of early fetal muscle.
nemaline myopathy a congenital abnormality of myofibrils in which small threadlike fibers are scattered through the muscle fibers; marked by hypotonia and proximal muscle weakness.
ocular myopathy a slowly progressive form affecting the extraocular muscles, with ptosis and progressive immobility of the eyes.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

mi·to·chon·dri·al my·op·a·thy

weakness and hypotonia of muscles, primarily those of the neck, shoulder, and pelvic girdles, with onset in infancy or childhood; on biopsy, giant bizarre mitochondria are seen located between muscle fibrils just beneath the sarcolemma. There are autosomal dominant [MIM*251900] and recessive forms due to deletions or duplications of mitochondrial DNA, with one recessive form [MIM*252010] associated with a deficiency of complex I of the mitochondrial respiratory chain.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
Data from the Peking Union Medical College Hospital revealed that the prevalence of scoliosis among patients with mitochondrial myopathies was 5% (3/60), much higher than that among the general population (2%).[8]
Reata Pharmaceuticals announced top-line data from the dose-escalation cohorts of the Phase 2 MOTOR trial of omaveloxolone for the treatment of patients with mitochondrial myopathies. This 12-week, exploratory, dose-ranging trial enrolled 53 patients across six dose levels.
Regarding the versatile effects of CoQ10 on cell metabolism, it is no surprise that CoQ10 has been shown to be a beneficial therapeutic in various age-related and degenerative conditions such as neurodegeneration, mitochondrial myopathies, age-related macular degeneration, and cardiovascular diseases [15-18].
However, mitochondrial myopathies are considered to be genetic defects that impair the synthesis, assembly, or maintenance of ETC components and involve primary mtDNA mutations as well as nuclear mutations that disrupt the replication of mtDNA, synthesis of ETC components, or mitochondrial protein synthesis (Sharp and Haller 2014).
Exercise and training in mitochondrial myopathies. Med Sci Sports Exerc 2005; 37: 2094-2101, doi: 10.1249/01.mss.0000177446.97671.2a.
For example, yeast is an ideal model organism for understanding some human mitochondrial myopathies because of the advantages of monitoring fermentative growth in the case of respiratory-deficient mutants.
The 3 main groups of metabolic myopathy are impaired muscle glycogenoses, disorders of fatty acid oxidation, and mitochondrial myopathies. (7)
CPEO is the most frequent manifestation of mitochondrial myopathies. (1) CPEO in association with mutations in mitochondrial DNA (mtDNA) may occur in the absence of any other clinical sign.
In the field of mitochondrial myopathies, primary CoQ(10) deficiencies have been identified, involving different genes of the CoQ(10) biosynthetic pathway; some of these conditions were found to be highly responsive to CoQ(10) administration.
Mitochondrial myopathies: Diagnosis, exercise intolerance and treatment options.
Other things to consider:whether you taking a statin drug; metabolic or mitochondrial myopathies (maybe some genetic variant of one of these); sickle cell trait; thyroid disease?

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