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Mitochondrial disease

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
5-10:100,000 inhabitants
Cause
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.
Synonyms
Subclasses: 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.

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.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Children with eating difficulties often need extra dental care, e.g. help with oral hygiene and fluoride treatment.
  • Persons with heart defects may require prophylactic antibiotics prior to oral interventions where bleeding is to be expected.
  • Eating and swallowing difficulties should be investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Orofacial therapy and oral motor skill training and stimulation is recommended for eating difficulties.
  • Speech and language difficulties are investigated and treated by a speech-language pathologist.
  • When treating medically compromised patients always contact their doctor for medical advice.

Sources

The MHC database Rare diseases Dokumentation-Ågrenska
Updated: 0001-01-01 00:00