Understanding mitochondrial disease and goals for its treatment

Mitochondrial disease is a progressive, debilitating, incurable illness that results from mutation of genes that regulate mitochondrial function. The disease can manifest in utero or at birth, during childhood, or have a delayed onset in adulthood. Mitochondrial disease can be transmitted as a genetically carried mutation or develop as a spontaneous genetic mutation later in life. As a multisystem disease with a highly variable clinical presentation, mitochondrial disease can present as 'any disease with any symptoms at any age'. Consequently, all patients with progressive, unexplained multisystem illness should be evaluated for mitochondrial disease. Treatment goals include slowing of disease progression and maximising quality of life. There is no cure for this illness. Effective interdisciplinary care includes energy management, nutritional support, physical therapy and emotional support for the patient and their family.