Mitochondrial myopathy

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Mitochondrial myopathy Classification and external resources
Image:562px-Diagram of a human mitochondrion.png
Simplified structure of a typical mitochondrion
ICD-10	G71.3
MeSH	D017240

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Overview

Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.

Examples include:

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)

• • varying degrees of cognitive impairment and dementia
  • lactic acidosis
  • strokes
  • transient ischemic attacks
  • hearing loss
  • dysmotility
  • weight loss

Myoclonic epilepsy and ragged-red fibers (MERRF)

• • progressive myoclonic epilepsy
  • clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain
  • short stature

Kearns-Sayre syndrome (KSS)

• • external ophthalmoplegia
  • cardiac conduction defects
  • sensory-neural hearing loss

Progressive external ophthalmoplegia (PEO)

• • progressive ophthalmoparesis is the cardinal feature
  • symptomatic overlap with many other mitochondrial myopathies

v • d • e Nervous system pathology, primarily PNS (G50-G99, 350-359)
Nerve, nerve root and plexus disorders (neuropathy, radiculopathy, plexopathy)	cranial nerve: V (Trigeminal neuralgia) - VII (Facial nerve paralysis, Bell's palsy, Melkersson-Rosenthal syndrome, Central seven) - XI (Accessory nerve disorder) nerve root and plexus: Brachial plexus lesion - Thoracic outlet syndrome - Phantom limb mononeuropathy: upper limb (Carpal tunnel syndrome, Ulnar nerve entrapment, Radial neuropathy) - Causalgia - lower limb (Meralgia paraesthetica, Tarsal tunnel syndrome, Morton's neuroma) - Mononeuritis multiplex
Polyneuropathies and other disorders of the PNS	hereditary and idiopathic (Charcot-Marie-Tooth disease, Dejerine Sottas syndrome, Refsum's disease, Morvan's syndrome) Guillain-Barré syndrome - Alcoholic polyneuropathy
Diseases of myoneural junction	autoimmune: Myasthenia gravis - Lambert-Eaton myasthenic syndrome
Diseases of muscle (myopathy)	Muscular dystrophy myotonic (Myotonic dystrophy, Myotonia congenita, Thomsen disease, Neuromyotonia, Paramyotonia congenita) congenital myopathy (Centronuclear myopathy, Nemaline myopathy, Central core disease) Mitochondrial myopathy periodic paralysis: Hypokalemic - Hyperkalemic
Autonomic	Familial dysautonomia - Horner's syndrome - Multiple system atrophy (Shy-Drager syndrome, Olivopontocerebellar atrophy)

v • d • e Mitochondrial diseases
Myopathies	MELAS - MERRF - KSS - PEO
Other	DAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome

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Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .