This syndrome belongs to mitochondrial, progressive disorders and is inherited by mothers to all offspring. Its prevalence could be estimated around 0.8-1/100,000. All manifestations are clear in adulthood, but onset is earlier, around the first decades of life.
Symptoms
- Ataxia
- Developmental delay
- Learning difficulties
- Muscular weakness
- Νeuropathy
- Salt and pepper retinitis – retinitis pigmentosa
- nystagmus
- Ophthalmoplegia – other ophthalmic signs
- Εpilectic seizures
- Depression
- Dementia
- Sleep apneas
- Hearing loss
- Cardiac arrhythmias
Diagnosis
- Clinical examination
- Electroretinogram
- Genetic test
- electromyogram
- ΜRI
- Prenatal / pre-implantation testing (in high risk families)
Management
There is no cure yet, but it is supportive. In particular, drugs are necessary for acidosis, such as antioxidants, for the epileptic crisis, for dystonias and for congestive cardiomyopathy.
Psychological support is imperative and a multidisciplinary team of neurologists, ophthalmologists and cardiologists needs to follow up regularly.
Useful links
Support groups
References
- Thorburn DR, Rahman J, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993.
- Finsterer J. Inherited mitochondrial disorders. Adv Exp Med Biol. 2012;942:187-213.
- Finsterer J, Zarrouk Mahjoub S. Epilepsy in mitochondrial disorders. Seizure. 2012;21(5):316-321.