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]