Mitochondrial disease : Overview
Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life.
Mitochondrial disease includes a group of neuromuscular diseases caused by damage to intracellular structures that produce energy, the mitochondria.
Symptoms include poor growth, loss of muscle coordination, muscle weakness, visual problems, hearing problems, learning disabilities, heart disease, liver disease, kidney disease, gastrointestinal disorders, respiratory disorders, neurological problems, autonomic dysfunction and dementia.
There is no specific treatment for mitochondrial diseases (myopathies). Vitamins are frequently prescribed, though the evidence for their effectiveness is limited. Pyruvate has been proposed recently as a treatment option. N acetylcysteine reverses many models of mitochondrial dysfunction.
The prognosis varies according to the disease type; in general, these diseases are progressive and can cause death.
Research into treatments and other disease aspects is ongoing; there are several organizations devoted to understanding and treating these relatively rare disorders.