Mitochondrial Myopathy

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Mitochondrial Myopathy

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Sara Burgos Salvador19.12.14 1HAINS La GuineuetaMITOCHONDRIAL MYOPATHY11. EtiologyThere are alterations in sequences of DNA.

mitochondrial DNA nuclear DNA

Inheritance: Maternal Autosomal recessive

Locus:vf22. Metabolic route affectedIt affectes in the oxidative phosphorylation.Certainly, the most common issues are in the complex I and IV.Complex 1 error: death in a few days -> 40mg riboflavina/day.Complex 4 error:


3. Signs and symptomsDeterioration of mental functionsMetabolic acidosisFatigabilityStrokeIntestinal pseudo-obstructionSideroblastic anemiaLiver and pancreatic failureRetinitis pigmentosaBlindnessExercise intoleranceHearing lossMotor disturbances4. ClinicDetermination of serum lactic acid > 2,5mMRelation lactate / pyruvate > 20Stress testingResonance spectroscopy with phosphorousMuscle biopsy ragged red fibers increase amount of lipidsBioquemical study of the respiratory chainMolecular analyzes for mtDNA mutationsin situ hybridization techniques

5. Palliative treatmentThere is NO definative therapy.However, there are some supportive methods to improve the quality of life of patients.Improved nutritionCardiac pacemarker implantationSurgical correctionExercise program

Metabolic treatment includes the use of products such as: creatine, coenzyme Q, succinate, riboflavin, nicotinamide, vitamin E, ascorbic acid, thiamine and L-carnitine.

6. Question7. AnswerA.B.C.D.E.