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Any disease of the muscles. Also known as myopathia.



progressive muscular dystrophy; a hereditary disease.

Myopathies can be transmitted as autosomal recessive or dominant, or sex chromosome-linked traits. Myopathies result from metabolic disturbances in muscle cells and a change in the biosynthesis of nucleic acids; the degradation of muscle proteins is considerably more rapid than their biosynthesis. In myopathies, muscles become flaccid and some of the fibers are replaced by fatty tissue. Electron microscopy reveals structural changes in the membranes of muscle cells. The main symptoms of the disease are increasing muscular weakness, symmetrical muscular atrophy, decrease in tendon reflexes and, in the later stages, bone and joint deformity. Autonomic trophic nerve functions are invariably impaired.

Myopathy is treated with anticholinesterase preparations, anabolic hormones, and vitamins B and E. Preventive measures include early diagnosis and detection of the heterozygous carrier state for the myopathy gene by using electrophysiological and biochemical tests.


Badalian, L. O., V. A. Tabolin, and Iu. V. Vel’tishchev. Nasledstvennye bolezni u detei. Moscow, 1971.
Hausmanowa-Petrusewicz, I. Myshechnye zabolevaniia. Warsaw, 1971. (Translated from Polish.)


References in periodicals archive ?
Horie, "Cardiac scintigraphic findings of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A case report," Experimental and Clinical Cardiology, vol.
Cytochrome c oxidase-intermediate fibres: importance in understanding the pathogenesis and treatment of mitochondrial myopathy. Neuromuscul Disord 2012; 22: 690-698, doi: 10.1016/j.nmd.2012.04.003.
Optic atrophy beginning in early childhood followed by adult-onset axonal neuropathy and mitochondrial myopathy without external ophthalmoplegia was the main clinical features described in a Tunisian family carrying the novel MFN2 missense mutation c.629A> T (p.D210V).
Anesthetic considerations in patients presenting with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
(55) Muscle biopsy in reverse transcriptase-myopathy shows evidence of a mitochondrial myopathy, with ragged-red fibers apparent on modified Gomori trichrome stain and cytochrome oxidase-negative fibers with histochemistry.
(84) Some of the heteroplasmic associated disorders are mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS), (85) rhabdomyolysis, (86) dystonia, (87) etc.
Mitochondrial myopathy (MM) patients exhibit a variety of compensatory responses which attempt to reconcile this energy deficiency.
The mitochondrial group with normal pyruvate dehydrogenase (PDH) activity (non-PDH) comprised patients (n = 35) with confirmed respiratory chain deficiencies and patients with classical mitochondrial syndromes such as mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS), Kearns-Sayre, or mitochondrial myopathy with ragged red fibers.
I have a progressive mitochondrial myopathy. I spent the majority of the last ten years in a wheelchair, until recently.
Their chance opportunity to buy this horse came last summer when Ann, who suffers for the Mitochondrial myopathy (a rare form of muscle-wasting disease) was selected to be a part of a special study exchange between the RVI, Newcastle and the University of Dallas, Texas.
(16) In that same year, specific human diseases (Leber hereditary optic neuropathy [LHON], mitochondrial myopathy, and Kearns-Sayre syndrome) were first linked to mtDNA mutation.

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