The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. [books.google.com]

Dimauro}, journal={Archives of Disease in Childhood}, year={1992}, volume={67}, pages={1033 - 1035} } Two siblings, a boy and a girl born in a nonconsanguineous marriage, presented with a similar clinical course. [semanticscholar.org]

[…] in adult life Clinical features: May present in adulthood Optic atrophy Growth retardation Spasticity Pulmonary edema KSS like presentation Coenzyme Q10 (CoQ) Deficiency Onset may present in midlife: Encoded by nuclear genome Transfers electron from [neurodiffdx.com]

Here, we present the case of a 4-week-old girl who initially presented with hyperammonemia, hypotonia, and failure to thrive, for which she was referred for genetic evaluation. [journals.sagepub.com]

Lactic acidosis is the metabolic signature in these diseases although not present in all syndromes, witness Leber hereditary optic neuropathy. [karger.com]

• Nausea

  Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can cause nausea and an irregular heart rate, and can be life-threatening. [medlineplus.gov]

  Signs and Symptoms Short stature Diabetes mellitus Pigmentary retinopathy Cardiac conduction defects Cardiomyopathy (dilated) Cataracts Liver disease Psychiatric manifestations (depression) Hypoparathyroidism Exocrine pancreatic dysfunction Episodic nausea [neurodiffdx.com]

• Vomiting

  […] deficiencies are noted Intermittent encephalopathy Carnitine levels are normal between attacks Valproate Therapy Decrease free serum carnitine: occurs primarily in children Increase serum ammonia: dose dependent Four to six day gradual increase of lethargy, vomiting [neurodiffdx.com]

  Symptoms may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizure activity. [rarediseases.org]

• Hepatomegaly

  Clinical examination revealed profound muscular hypotonia, hepatomegaly, increased serum creatine kinase activities, and lactic acidosis. Both infants were treated with gavage feeding, the boy also needing ventilatory support. [semanticscholar.org]

  ترجمة المقالات الدخول التسجيل فى الموقع يتم حفظ الارتباط في الحافظة الكلمات الدالة oxidase ضعف تضخم كبد mitochondrial myopathies نقص التوتر حماض كارنتين cytochrome c نبذة مختصرة A 2-month-old girl had generalized weakness, profound muscular hypotonia, hepatomegaly [herbal-organic.com]

• Muscle Hypotonia

  Clinically, patients had severe generalized muscle hypotonia and weakness from birth to 3 months of age. Two patients had facial muscle involvement and high-arched palate. [pediatricneurologybriefs.com]

  At age 7 months neurological examination revealed marked generalized muscle weakness and wasting, diffuse muscle hypotonia and no deep tendon reflexes. [docslide.net]

  Affected children uniformly present with severe muscle weakness and hypotonia in the first days or weeks of life and often require assisted ventilation. [mafiadoc.com]

• Myalgia

  Patients 8 and 12, whose muscle strength had greatly improved after zidovudine was discontinued, had myalgia and weakness when zidovudine was reinstituted at low doses (up to 400 mg daily) six months later. [nejm.org]

  […] plus (DOAplus), Leber's hereditary optic neuropathy (LHON), Wolfram Syndrome-1 (WFS1), Wolfram Syndrome-2 (WFS2), Age-related macular degeneration (ARMD), Brunner Syndrome, Left ventricular noncompaction-1 (LVNC1), histiocytoid cardiomyopathy, Familial Myalgia [brevets-patents.ic.gc.ca]

  […] should be considered in a patient with a lipid storage myopathy Recurrent encephalopathy resembling Reye's syndrome is characteristic Recurrent hypoglycemia with or without ketoacidosis precipitated by: Caloric deprivation Exercise Infection Pregnancy Myalgia [neurodiffdx.com]

• Hyporeflexia

  Richard Koenigsberger and Darryl C Devivo}, journal={Annals of neurology}, year={1981}, volume={14 2}, pages={ 226-34 } } Published in Annals of neurology 1981 DOI: 10.1002/ana.410140209 A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia [semanticscholar.org]

  Pediatric Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032 Search for more papers by this author First published: August 1983 Citations: 151 Abstract A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia [onlinelibrary.wiley.com]

  Abstract A 2‐week‐old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. [doi.org]

• Areflexia

  At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 8 1/2 months of cardiac arrest. [unboundmedicine.com]

  At age 41/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted. She died at age 81/2 months of cardiac arrest. [jamanetwork.com]

  […] thiamine pyrophosphokinase 230 deficiency/Thiamine Metabolism Dysfunction Syndrome-5 (THMD5), Spinocerebellar ataxia-28 (SCA28), autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN), Dominant Optic Atrophy (DOA), cerebellar ataxia, areflexia [brevets-patents.ic.gc.ca]

• Tremor

  […] hearing) problems, reduced mental functions, hypotonia, disease of the organ, dementia, respiratory problems, hypoglycemia, apnea, lactic acidosis, seizures, swallowing difficulties, developmental delays, movement disorders (dystonia, muscle spasms, tremors [brevets-patents.ic.gc.ca]

  On 24-2 -2014 she developed acute pulmonary oedema, while she was sleeping associated with carpo-pedal spasm, tremors, fatigability. [medcraveonline.com]

  (CPEO) AD-CPEO: Sporadic multiple mtDNA deletions: One deletion affects the heavy strand promoter – HSP region Chromosome 3p Clinical features: Progressive external ophthalmoplegia Severe ptosis (symmetrical) No diplopia Proximal myopathy Cataracts Tremor [neurodiffdx.com]

Early diagnosis is crucial to provide intensive treatment until spontaneous clinical improvement appears. [herbal-organic.com]

Most of the gene defects in this group of patients remain unknown and there are no effective treatments. [ncl.ac.uk]

However, while the mechanism of action of GCs in the treatment of MIDs remains largely unknown, there are indications that GCs act not only in the nucleus but also in mitochondria.( 3, 4 ) Herein, we summarise and discuss the role of GCs in the treatment [smj.org.sg]

Similarly, the specimens from the patients who did not respond to any therapy did not differ histologically from those of the patients who responded to treatment ( Table 1 ). [nejm.org]

Current investigations cannot distinguish those with a good prognosis from those with terminal disease, making it very difficult to decide when to continue intensive supportive care. [nemoursresearch.org]

This study provides the rationale for a simple genetic test to identify infants with mitochondrial myopathy and good prognosis. [f1000.com]

Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes. [journals.lww.com]

Mitochondrial myopathies generally have a bad prognosis. But recently Horvath et al., 20 have described the genetics of a rare but strangely, relatively benign form of mitochondrial myopathy.” [medcraveonline.com]

Neonatal cardiomyopathies commonly are associated with poor prognosis, and the underlying etiology of this disorder differs considerably from cardiomyopathies in older children, adolescents, and adults with similar phenotypes. [journals.lww.com]

Mitochondrial disease--its impact, etiology, and pathology. Curr Top Dev Biol 77:113-55 Phoenix C; Schaefer AM; Elson JL; Morava E; Bugiani M; Uziel G; Smeitink JA; Turnbull DM; McFarland R, 2006. [newcastle-mitochondria.com]

Is the tRNALeu(UUR) gene an etiologic hot spot?". The Journal of Clinical Investigation 92(6):2906-2915. 156. Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993). [mitomap.org]

[…] deficiency - Reversible infantile cytochrome c oxidase deficiency - Reversible infantile respiratory chain deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

"Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes". [mitomap.org]

Sepsis–induced cardiomyopathy: a review of pathophysiologic mechanisms. Heart Fail Rev. 2010;15(6):605–611. Parker MM, Shelhamer JH, Bacharach SL, et al. Profound but Reversible myocardial depression in patients with septic shock. [medcraveonline.com]

Schon and Salvatore DiMauro, Primary Disorders of Mitochondrial DNA and the Pathophysiology of mtDNA-Related Disorders, Mitochondria in Pathogenesis, 10.1007/0-306-46835-2_3, (53-80), (2002). Rachel A. Nardin and Donald R. [doi.org]

"Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease". Cell 55(4):601-610. [mitomap.org]

Pathophysiology of exercise in a novel human muscle oxidative defect. J. Clin. Investig. 1991, 88, 1197–1206. [mdpi.com]

A method for treating or preventing a mitochondrial disease or disorder in a subject in need thereof, comprising administering to the subject a therapeutically effective amount of a catechol derivative or a pharmaceutically acceptable salt thereof, in [brevets-patents.ic.gc.ca]

View Article PubMed Google Scholar Dasgupta S, Hoque MO, Upadhyay S, Sidransky D: Forced cytochrome B gene mutation expression induces mitochondrial proliferation and prevents apoptosis in human uroepithelial SV-HUC-1 cells. [cancerandmetabolism.biomedcentral.com]

Addition of catalase prevents contamination from endogenous peroxidase activity. [mdpi.com]