ubiquinone and Myotonic-Dystrophy

Topics: alpha-Galactosidase; Arginine; Child; Coenzymes; Glucosylceramidase; Heredodegenerative Disorders, Nervous System; Humans; Isoenzymes; Lysosomal Storage Diseases; Mitochondrial Diseases; Molecular Diagnostic Techniques; Myotonic Dystrophy; Peripheral Nervous System Diseases; Peroxisomal Disorders; Trinucleotide Repeats; Ubiquinone; Vitamin E

Topics: Adolescent; Adult; Age Factors; Animals; Child; Child, Preschool; Contracture; Creatine Kinase; Humans; Infant; Infant, Newborn; Muscular Dystrophies; Myotonia; Myotonia Congenita; Myotonic Dystrophy; Ubiquinone

Coenzyme Q10 (vitamin Q10) is biosynthesized in the human body and is functional in bioenergetics, anti-oxidation reactions, and in growth control, etc. It is indispensable to health and survival. The first double-blind trial was with twelve patients, ranging from 7-69 years of age, having diseases including the Duchenne, Becker, and the limb-girdle dystrophies, myotonic dystrophy. Charcot-Marie-Tooth disease, and the Welander disease. The control coenzyme Q10 (CoQ10) blood level was low and ranged from 0.5-0.84 microgram/ml. They were treated for three months with 100 mg daily of CoQ10 and a matching placebo. The second double-blind trial was similar with fifteen patients having the same categories of disease. Since cardiac disease is established to be associated with these muscle diseases, cardiac function was blindly monitored, and not one mistake was made in assigning CoQ10 and placebo to the patients in both trials. Definitely improved physical performance was recorded. In retrospect, a dosage of 100 mg was too low although effective and safe. Patients suffering from these muscle dystrophies and the like, should be treated with vitamin Q10 indefinitely.

Topics: Adolescent; Adult; Aged; Charcot-Marie-Tooth Disease; Child; Coenzymes; Double-Blind Method; Female; Humans; Male; Middle Aged; Muscular Atrophy; Muscular Dystrophies; Myotonic Dystrophy; Ubiquinone

Topics: Angiotensin-Converting Enzyme Inhibitors; Bundle-Branch Block; Cardiac Resynchronization Therapy; Cardiomyopathy, Dilated; Defibrillators, Implantable; Echocardiography; Echocardiography, Doppler; Echocardiography, Three-Dimensional; Electrocardiography; Heart Failure; Humans; Male; Myotonic Dystrophy; Stroke Volume; Tachycardia, Ventricular; Ubiquinone; Vitamins; Young Adult

An impairment of mitochondrial function may contribute to the pathophysiology of myotonic dystrophy (MyD). Coenzyme Q10 (CoQ10) deficiency has been previously observed, even if in a restricted sample of patients. The aim of this investigation was to obtain more information about coenzyme Q10 and its relationships to the aerobic metabolism in a group of MyD patients. Serum CoQ10 appeared significantly reduced with respect to normal controls: 0.93 +/- 0.22 vs. 1.58 +/- 0.28 micrograms/ml (p < 0.05). Moreover, the results demonstrated an inverse tendency between CoQ10 levels and the CTG expansion degree. Basal blood lactate levels were significantly higher than controls (p < 0.05). A borderline inverse correlation between CoQ10 and lactate, corresponding to lactate threshold, was found. These data suggest a possible role of CoQ10 in the pathogenesis of MyD, which may be mediated by mechanisms of cellular damage common to the oxidative pathway. Therapeutic strategies may be devised by virtue of this rationale.

Topics: Coenzymes; Diagnosis, Differential; Energy Metabolism; Humans; Lactic Acid; Mitochondria, Muscle; Muscle, Skeletal; Myotonic Dystrophy; Trinucleotide Repeat Expansion; Ubiquinone