MELAS syndrome
What is it?
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. Early symptoms include seizures, headaches, loss of appetite, and vomiting. As well as stroke-like episodes, temporary muscle weakness on one side of the body (hemiparesis) may occur, resulting in altered consciousness, vision and hearing loss, loss of motor skills, and intellectual disability.
Mutations in mitochondrial DNA cause MELAS, and in one case, POLG1 mutations caused this syndrome.
Signs & symptoms
In the same family and between different families, MELAS syndrome is characterized by a wide range of symptoms and physical findings. Strokes-like episodes are recurrent in MELAS syndrome. Strokes-like episodes may be caused by a deficiency of a compound called nitric oxide in the small blood vessels of the brain. Fatigue and difficulty tolerating exercise may be early symptoms, as well as short stature and hearing loss.
Diagnosis
Clinical findings and molecular genetic testing are used to diagnose MELAS.
To look for stroke-like lesions in the brain, magnetic resonance imaging (MRI) may be used, while magnetic resonance spectroscopy (MRS) may be used to find lactate peaks.
Treatment
MELAS syndrome does not have a specific treatment. Anticonvulsant drugs are used to prevent and control seizures associated with MELAS syndrome. In some patients, coenzyme q10 and L-carnitine have been beneficial. Families and individuals affected by genetic disorders are advised to seek genetic counseling.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
Learn more about our editorial process for content accuracy.
Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
Latest discussions
.png)
Find people who are
experiencing a similar
medical reality
Free
Alike Wisdom
Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences
You might also like