Contact us
Precision Medicine
What is mitochondrial encephalopathy?
11 December 2025
It is a chronic neurological disorder caused by genetic mutations that prevent the proper functioning of cell mitochondria, affecting the muscles and the central nervous system.
Mitochondrial encephalopathy presents from early childhood to adulthood and is caused by inherited or spontaneous genetic mutations.
The organs that can suffer the most damage from this rare disease are the brain, heart, liver, muscles, and kidneys.
To better understand this condition, it’s important to mention that mitochondria are found in the cytoplasm and are responsible for generating most of the chemical energy required to activate the body’s biochemical responses.
Signs and symptoms Mitochondrial Encephalopathy
The symptoms are variable but typically include:
- Retinal abnormalities.
- Strokes (cerebrovascular accidents).
- Seizure episodes.
- Droopy eyelids (ptosis).
- Muscle weakness.
- Dementia.
- Cognitive decline.
- Diabetes.
- Migraine.
- Heart failure.
- Nausea.
- Hearing loss.
- Tremors.
- Vomiting.
Diagnosis and treatment Mitochondrial Encephalopathy
The specialist doctor will analyze your symptoms and clinical history, then perform a physical examination and request the following studies to rule out other diseases and confirm the diagnosis:
- Blood tests.
- Muscle biopsy of the affected organ.
- Mitochondrial chain study.
- Molecular study.
Mitochondrial encephalopathy has no cure, so treatment aims to relieve symptoms and slow the progression of the disease through:
- Regular physical activity.
- Medications.
- Nutritional supplements.
- Psychotherapy.
- Physical therapy and rehabilitation.
- Speech therapy.
- Support groups.
At the Neurological Center, a group of highly trained and certified doctors in various neurological specialties are prepared to treat you with the quality and warmth that characterizes us.
Related centers and departments Mitochondrial Encephalopathy
Fuentes:
- neurologia.com
- nih.gov
- elsevier.es
- cun.es
- wnyurology.com
- msdmanuals.com
- mayoclinic.org
- medigraphic.com
- Vargas DJ, Garófalo GN, Novoa LL, et al. Encefalopatía mitocondrial, acidosis láctica y eventos parecidos al ictus en un adolescente. Rev Cubana Pediatr. 2017;89(4):1-9.
- García-Beristain JC, Barragán-Pérez EJ. Mutación m.3271T›C del gen MTTL1/ en encefalopatía mitocondrial, acidosis láctica y episodios stroke like (MELAS) en edad pediátrica. A propósito de un caso. Acta Pediatr Mex. 2017;38(3):165-174.
- Dulce Anabel Espinoza-López, Edwin Steven Vargas-Cañas, Alexandra Díaz-Alba, et al. Encefalopatía mitocondrial, acidosis láctica y episodios stroke like (MELAS). Arch Neurocien. 2012;17(2):138-141.
How can we help you?
The dissemination of the content of this material is for informational purposes only and does not replace, under any circumstance or condition, a consultation with a specialist doctor, for which the ABC Medical Center is not responsible for the different use that may be given to it. If you require more information related to the subject, we suggest you contact the specialist doctor you trust directly.
Interest-free
months in:
Interest-free
months in:
Specialty Centers
Diagnostic Studies
Check-ups
Hospitalization1
Valid until December 31, 2025. Promotions not cumulative. Subject to restrictions 1. In hospitalization, medical fees are not included. 2. Minimum amount: $1,500 for 3 to 6 months and $3,000 for 7 to 9 months 3. Minimum amount $1,500. (Cards issued abroad are not eligible).