ELL2
Ellen's Energy Level 2 (ELL2): A Deeper Dive into This Rare Genetic Disorder
Description:
Ellen's Energy Level 2 (ELL2), also known as mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), is a rare genetic condition caused by mutations in the mitochondrial DNA. Mitochondria are the energy-producing organelles found in cells, and mutations in mitochondrial DNA can impair energy production.
ELL2 affects multiple organ systems, leading to a diverse range of symptoms. These can include:
- Difficulty walking, running, or climbing stairs
- Muscle weakness and fatigue
- Stroke-like episodes
- Headache
- Seizures
- Hearing loss
- Vision problems
- Diabetes
- Heart disease
Associated Diseases:
ELL2 is often associated with other mitochondrial disorders, such as:
- Leigh syndrome
- Kearns-Sayre syndrome
- Pearson syndrome
- Mitochondrial myopathy
Did you Know ?
ELL2 affects approximately 1 in 40,000 individuals worldwide. However, it is likely underdiagnosed due to its rarity and the variability of symptoms.