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Myopathy with Giant Abnormal Mitochondria


  • Advances in Genetics, Volume 98 provides the latest information on the rapidly evolving field of genetics, presenting new medical breakthroughs that are occurring as a result of advances in our knowledge of the topic.[books.google.com]
  • Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age.[bcmj.org]
  • Diagnostic Challenges: There are many different clinical presentations for mitochondrial disease and mitochondrial disease may mimic many other conditions.[newcastle-mitochondria.com]
  • In the present study, there were 8 male and 6 female patients. The mean age of presentation was 24.42 11.18 years (range 4-40 years).[neurologyindia.com]
  • The presentation is usually insidious as in T2D, however around 20% of cases present acutely, even with ketoacidosis in a small proportion.[diapedia.org]
  • Associated with Gastrointestinal Diseases E-2785 160 Counseling Children with Neurologic Disorders and Their Families E-2823 161 Approaches to Personalized Medicine in Pediatric Neurology E-2831 162 Pediatric Neurorehabilitation Medicine E-2839 163 Pain[books.google.com]
  • Living with metabolic myopathies Everyone has run out of energy, become tired when doing physical activities, or experienced muscle pains and cramps after exercising. These are common symptoms.[rheumatology.org]
  • • improve gut transit • Liver • improve synthetic function • Nerve – improve autonomic function – lessen pain – improve nerve conduction (all tissues) • Pancreas improve b-cell function improve insulin production • GI – improve gastric motility – improve[slideshare.net]
  • It causes debilitating physical, developmental, and cognitive disabilities with symptoms including poor growth; loss of muscle coordination; muscle weakness and pain; seizures; vision and/or hearing loss; gastrointestinal issues; learning disabilities[mitoaction.org]
Cerebral Palsy
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
  • Cerebral palsy. Spinal muscular atrophy. Congenital hypomyelinating neuropathies. It may be difficult to distinguish myopathy from peripheral neuropathy.[patient.info]
  • Cerebrovascular accident ; bulbar polio ; cerebral palsy ; multiple sclerosis ; amyotrophic lateral sclerosis ; brain stem tumor... II. Peripheral nerve disease. Lead poisoning ; infections (diphtheria ; botulism ; tetanus)... III. Muscular disease.[hon.ch]
  • The main neurological symptoms of mitochondrial disease include developmental delays, mental retardation or regression, dementia, seizures (especially atypical or refractory ones), coma, neuro-psychiatric disturbances, atypical cerebral palsy, myoclonus[amdf.org.au]
  • […] in the body), the common symptoms will be listed by organ system (and in Figure 4): Brain: seizures, myoclonus (muscle jerking), ataxia (imbalance), stroke, dementia, intellectual disability, developmental delay, migraine headaches, autism, atypical cerebral[childneurologyfoundation.org]
Movement Disorder
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
  • Movement disorders have been described due to mitochondrial abnormalities. [19], [20] Dystonia has been the most frequent movement disorder [20] besides myoclonus, chorea, athetosis, and tremors.[neurologyindia.com]
  • In pediatric mitochondrial disease, a broad spectrum of findings may be present, including lethargy, hypotonia, failure to thrive, seizures, cardiomyopathy, deafness, blindness, movement disorder, and lactic acidosis.[bcmj.org]
  • disorders, ataxia (poor coordination), migraines and strokes.[amdf.org.au]
Heart Disease
  • -2626 153 Endocrine Disorders of the Hypothalamus and Pituitary in Childhood and Adolescence E-2637 155 Disorders of Micturition and Defecation E-2670 156 Poisoning and DrugInduced Neurologic Diseases E-2689 157 Neurologic Disorders in Children with Heart[books.google.com]
  • For example, in adults many “diseases of aging” have been found to have defects of mitochondrial function, including type 2 diabetes, Parkinson’s disease, atherosclerotic heart disease, stroke, Alzheimer’s disease and cancer.[draxe.com]
  • In adults, many diseases of aging have been found to have defects of mitochondrial function; these include, but are not limited to, Type 2 diabetes, Parkinson's disease, atherosclerotic heart disease, stroke, Alzheimer's disease, and cancer.[mitoaction.org]
  • disease, abnormal basic labs and not be on a list of several dozen drugs that activate the P450 2C8 or 3A4 system 30.[slideshare.net]
  • Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis[books.google.com]
Proximal Muscle Weakness
  • The mitochondrial diseases may present in young adulthood and manifest with proximal muscle weakness, sometimes with severe involvement of the muscles that move the eyes (external ophthalmoplegia).[humpath.com]
  • Symmetrical proximal muscle weakness with absence of sensory symptoms (paraesthesia). Atrophy of muscles (and reduced reflexes) occurs late with myopathies (early with neuropathy).[patient.info]
  • All the patients had proximal muscle weakness, myalgia, a two- to six-fold elevation of the serum creatine kinase level (measured by an enzymatic reaction), and evidence of myopathic changes in the electromyogram, all of gradual onset, as previously reported[nejm.org]
  • Metabolic Disorders of the White Matter E-1690 100 Acquired Disorders Affecting the White Matter E-1725 101 Disorders of Consciousness in Children E-1741 102 Traumatic Brain Injury in Children E-1774 103 Abusive Head Trauma E-1821 104 HypoxicIschemic Encephalopathy[books.google.com]
  • Cytochrome c oxidase-deficient fibers Electron microscopy – increase in mitochondrial number or size, increased lipid and glycogen droplets, increased mitochondrial matrix Neurophysiologic studies Electroencephalography for individuals with suspected encephalopathy[arupconsult.com]
  • Several mitochondrial encephalopathy and encephalomyopathy syndromes have been described. Muscle involvement is characterized by weakness and ophthalmoplegia.[neuropathology-web.org]
  • Some cases of subacute necrotizing encephalopathy (Leigh syndrome), exertional myoglobinuria, and infantile X-linked cardioskeletal myopathy (Barth syndrome) are due to mutations in nuclear DNA.[humpath.com]
  • Myo-Neuro-Gastro-Intestinal disease and Encephalopathy (MNGIE syndrome): a patient with multiple deletions of mitochondrial DNA (abstract).[em-consulte.com]
Peripheral Neuropathy
  • Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E[books.google.com]
  • It may be difficult to distinguish myopathy from peripheral neuropathy.[patient.info]
  • neuropathy Ataxia Pigmentary retinopathy Maternal MT-ATP6 (estimated to account for 50% of cases) m.8993T G m.8993T C Pearson syndrome Sideroblastic anemia of childhood Pancytopenia Exocrine pancreatic failure Sporadic (maternal transmission infrequent[arupconsult.com]
  • Mitochondrial cytochrome B gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy. Clin Neuropathol. 1998;17:291-296. Poulton J, et al. Duplications of mitochondrial DNA in Kearns-Sayre syndrome.[rarediseases.org]
  • Peripheral neuropathy, which may be symptomatic or only detected on physical examination or through nerve conduction studies, is also a frequent manifestation of mitochondrial diseases.[bcmj.org]
Neurologic Manifestation
  • Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric[books.google.com]
  • Neurological manifestations of mitochondrial cytopathies comprise of multineuraxial involvement with raised serum lactic acid and positive muscle biopsy for mitochondrial abnormalities confirmed by genetic analysis for mitochondrial DNA/nuclear DNA mutation[neurologyindia.com]
  • Neurological manifestations include encephalopathy, cognitive regression, seizures, and peripheral neuropathy. Involvement of skeletal and cardiac muscle is frequent, while endocrine system manifestations commonly include diabetes mellitus.[bcmj.org]
Myoclonic Jerking
  • Seizures began at 21/2 years with arm stiffness, then clusters of right-sided facial twitching and weakness, then staring spells, eye twitching, and myoclonic jerks.[bcmj.org]
  • His generalised tonic clonic seizures were controlled, although brief myoclonic jerks were persisting. MELAS was first described by Pavlakis et al [15] in 1984.[neurologyindia.com]


  • The latter are usually readily excluded during the metabolic workup by clinical presentation, MRI, and biochemical investigations.[mitosoc.org]


  • As far as we know - the only treatment is stopping statins if they are bringing out symptoms and considering CoQ10 supplementation. jpmorgan: For mitochondrial disease treatment, the levels of vitamins and minerals taken are very high.[my.clevelandclinic.org]
  • […] expression of mitochondrial proteins as a radical treatment for mtDNA mutation load.[en.wikipedia.org]
  • What is the prognosis with treatment? There is no proved treatment for mitochondrial disorders. The prognosis is unpredictable without treatment; this is why natural history studies for each condition are so important.[childneurologyfoundation.org]
  • A few patients improve on treatment with specific vitamins such as ubiquinone, but most do not.[mda.org.au]
  • The diet, levels of physical activity and dietary supplements recommended for treatment will vary depending on the myopathy.[rheumatology.org]


  • Meet other parents and patients in our closed Facebook group. back to top What is the Prognosis for Someone? The prognosis is variable. Some people live a normal life and are minimally affected; others can be severely compromised with the disease.[mitoaction.org]
  • Hence, the illness tends to progress more quickly than in adults and with a poorer prognosis. The older a person is when symptoms occur, the slower the progression and the better the prognosis.[amdf.org.au]
  • PROGNOSIS Prognosis depends upon which disorder, which symptoms and the severity of those symptoms. Some of the conditions we thought were uniformly progressive and fatal are not (Leigh syndrome, for example).[childneurologyfoundation.org]
  • Prognosis This depends on the specific diagnosis. The primary disorders are incurable conditions with varied prognosis. Secondary myopathy may be corrected by treating the underlying cause.[patient.info]
  • It is true though that the muscle biopsy results do not directly affect our ability to provide prognosis or choose treatment if a person has mitochondrial disease.[my.clevelandclinic.org]


  • Certain differences between the "coupling" data of Luft and ours and certain aspects of the "coupling" response to chloramphenicol remain unexplained, as does the ultimate etiology of the mitochondrial disease. FULL TEXT[annals.org]
  • Studies using larger numbers of patients with defined diseases of particular genetic etiologies will enhance the diagnostic value of MRS results.[mitosoc.org]
  • All the cases were investigated to rule out other etiologies according to their clinical presentations and to confirm the diagnosis of mitochondrial cytopathy.[neurologyindia.com]
  • Etiologic factors in cricopharyngeal dysphagia I. Central nervous system disease. Cerebrovascular accident ; bulbar polio ; cerebral palsy ; multiple sclerosis ; amyotrophic lateral sclerosis ; brain stem tumor... II. Peripheral nerve disease.[hon.ch]
  • Testing Multiple complex neurologic features or a single neurological symptom with other system involvement Lactic acidosis (in children) Clinical symptoms characteristic of a specific mitochondrial disorder Any progressive multisystem disorder of unknown etiology[arupconsult.com]


  • Epidemiology These are all relatively uncommon diseases: Duchenne muscular dystrophy is easily the most common childhood-onset muscular dystrophy and affects 1 in 3,300 boys. [ 6 ] The prevalence of Duchenne muscular dystrophy is 63 cases per million.[patient.info]
  • […] hepatitis B or hepatitis C Reye syndrome Wilson disease Myopathy Chronic demyelinating inflammatory polyneuropathy Dermatomyositis Guillain-Barré syndrome Paraneoplastic syndrome Lactic acidosis Inborn errors of metabolism Polymyositis Sepsis Background Epidemiology[arupconsult.com]
  • Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan. Pang CY, Huang CC, Yen MY, Wang EK, Kao KP, Chen SS, Wei YH.[thedoctorsdoctor.com]
  • Epidemiology [ edit ] About 1 in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.[en.wikipedia.org]
Sex distribution
Age distribution


  • Although the exact pathophysiology of statin-induced myopathies is not fully understood, important mitochondrial cofactors arise from the cholesterol biosynthesis pathway, such as CoQ10.[michaelrucker.com]
  • "Mitochondrial modulators for bipolar disorder: A pathophysiologically informed paradigm for new drug development". Australian & New Zealand Journal of Psychiatry . 47 : 26–42. doi : 10.1177/0004867412449303 .[en.wikipedia.org]
  • […] variant Females with heteroplasmy but no clinical symptoms may have affected offspring Variable amount of affected mitochondria is passed to offspring Poor genotype/phenotype correlation exists; the same variant may cause different clinical syndromes Pathophysiology[arupconsult.com]
  • Post operative CNS dysfunction is likely in MM and pathophysiology is directly attributable to the patient’s primary pathology of dysfunctional mitochondria.[mhaus.org]
  • Endocrine system Endocrine disorders may present in childhood or may develop over time and present in adulthood.[ 17,18 ] Diabetes mellitus with a complex pathophysiology can occur.[bcmj.org]


  • […] further retinitis or optic atrophy • Ears – prevent further hearing loss • Systemic – growth - prevention of failure to thrive 13. • Brain • Seizure count • Age-appropriate neuropsychological testing • Headaches Diary • Stroke Count • Dozens of motor[slideshare.net]
  • Prevention Genetic counselling is, in some of the most common myopathies such as Duchenne muscular dystrophy, the only intervention that can prevent disease. In general: Give genetic counselling early.[patient.info]
  • Research is ongoing to develop a way to prevent the transmission of mitochondrial DNA mutations to future children.[mda.org.au]
  • Many different natural antiviral herbs might be able to help prevent frequent infections.[draxe.com]
  • Are these tumors related to the MERRF and is there any way to try and prevent their growth? Speaker_-_Dr__Sumit_Parikh: Fatty tumors (lipomas) can be seen more commonly in certain mitochondrial disorders. There is no way to prevent these.[my.clevelandclinic.org]

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