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Mitochondrial Disease


  • Alpers’ disease
  • Pearson syndrome
  • Leigh's disease
  • LHON (Leber's hereditary optic neuropathy)
  • MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes).
  • MERRF (myoclonic epilepsy with ragged-red fibers)
  • MIDD (maternal inherited diabetes and deafness)
  • MNGIE (mitochondrial neurogastrointestinal encephalomyopathy)
  • NARP (neuropathy, ataxia, retinitis pigmentosa)
  • Progressive external ophthalmoplegia (PEO)
  • Progressive encephalomyopathy

Estimated occurrence

5-10:100,000 inhabitants


Change in the gene in mitochondrial DNA or nuclear DNA that causes defects to the mitochondria, which generate energy for the cell. The heredity channel varies depending on the disease.

General symptoms

Mitochondrial diseases are progressive in which one or more of the bodily organs can be affected. Nerve cells, muscles and endocrine organs are particularly sensitive to energy shortages, but even hearing and vision may be affected. Muscle weakness, muscle wasting, and exercise-induced pain is common. Many people have problems with headaches and nausea.

Orofacial/odontological symptoms

Muscle weakness that affects the chewing muscles and facial muscles can lead to malocclusion. In cases of neurological anomalies, and if oral motor skills are impaired, the ability to eat and speak are affected and drooling may occur.

Orofacial/odontological treatment

  • Regular check-ups of dental and jaw development may be needed around the age of 7 to 9. Orthodontist should be consulted when needed.
  • Problems in managing oral hygiene and tooth brushing justify extra preventive dental care
  • Speech and language difficulties should be treated by a speech therapist.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Training in oral motor skills and extra stimulation in cases of eating disorders, speech difficulties and drooling may be necessary.


  • The rare disease database of the Swedish National Board of Health and Welfare.
  • The MHC database - The Mun-H-Center database on oral health and orofacial function in rare diseases.
  • The Documentation from the Ågrenska national competence centre for rare diseases.
Updated: 2017-03-24 10:24