Detailed Information on Mitochondrial Disease

Mitochondrial myopathies are a group of neuromuscular diseases. Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. The mitochondria alter the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function.

The location of the affected mitochondria affects which systems of the body are involved and what symptoms will be present. The disease largely affects children, but adult onset is becoming more and more frequent. Diseases of the mitochondria seem to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Mitochondria may not function correctly due to a inherited defect, damage caused by drugs, or damage caused by free radicals. The types of mitochondrial diseases are categorized according to the organ systems affected and symptoms present.

The symptoms of mitochondrial disease are diverse, depending on the systems affected. Symptoms may involve seizures, cruel unexplained vomiting, warm or cold intolerance, poor muscle tone, developmental delays, severe unexplained diarrhea or constipation, poor growth, visual or hearing problems, and the inability to fight off infections.  Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Headache and breathlessness are also associated with these disorders.

There is no cure for mitochondrial disease. Physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, and carnitine (a specialized amino acid) may extend subjective improvement in tiredness and energy levels in some patients. Pyruvate has been proposed recently as a treatment option.  Prevention is better than cure. Avoidance of stressful factors. Alcohol and Cigarette smoke are probably due to the carbon monoxide is known to hasten the progression of some conditions. So avoid alcohol and cigarette.