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Mitochondrial Complex 3 Deficiency Nuclear Type 6
MC3DN6

Presentation

Ragged-red fibers, a characteristic microscopic abnormality observed in muscle biopsy, are commonly present with this form.[5] In some individuals, encephalomyopathy does not begin until childhood or adulthood. [rarediseases.info.nih.gov]

Musculoskeletal

  • Myopathy

    People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). [ghr.nlm.nih.gov]

    Ragged-red fibers are common in these individuals as well.[5] Individuals with a less severe type may have myopathy with exercise intolerance that progresses to general weakness. [rarediseases.info.nih.gov]

  • Muscle Weakness

    People who are mildly affected tend to have muscle weakness (myopathy) and extreme tiredness (fatigue), particularly during exercise (exercise intolerance). [ghr.nlm.nih.gov]

    weakness Muscular weakness 0001324 Muscular hypotonia Low or weak muscle tone 0001252 Ragged-red muscle fibers 0003200 Rhabdomyolysis Breakdown of skeletal muscle 0003201 Rod-cone dystrophy 0000510 Seizures Seizure 0001250 Spasticity Involuntary muscle [rarediseases.info.nih.gov]

Neurologic

  • Encephalopathy

    Encephalopathy can cause delayed development of mental and motor skills (psychomotor delay), movement problems, weak muscle tone (hypotonia), and difficulty with communication. [ghr.nlm.nih.gov]

    […] mitochondria, which are specialized compartments in cells that generate more than 90% of the energy required by the body.[1] It is a severe, multisystem disorder that includes features such as lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy [rarediseases.info.nih.gov]

  • Seizure

    The most severe form begins in infancy and causes life-threatening muscle and nervous system dysfunction (encephalomyopathy), lactic acidosis at birth, hypotonia (poor muscle tone), dystrophic posturing, seizures, and coma. [rarediseases.info.nih.gov]

  • Global Developmental Delay

    developmental delay 0001263 Hallucinations Hallucination Sensory hallucination [ more ] 0000738 Hyperreflexia Increased reflexes 0001347 Hypertrophic cardiomyopathy Enlarged and thickened heart muscle 0001639 Hypoglycemia Low blood sugar 0001943 Increased [rarediseases.info.nih.gov]

Treatment

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

Prognosis

Endothelial dysfunction and coronary artery disease: assessment, prognosis and treatment. Coron Artery Dis, 25(8), 713-724. [ Links ] 30. Hadi, H., Carr, C. and Suwaidi, J. (2005). [scielo.sa.cr]

Prevention

Antimycin A locks the b hemes in the reduced state by preventing their re-oxidation at the Qi site, which, in turn, causes the steady-state concentrations of the Qo semiquinone to rise, the latter species reacting with oxygen to form superoxide. [en.wikipedia.org]

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