What are symptoms of MELAS?
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What are symptoms of MELAS?
Short stature and hearing loss may be present and fatigue and difficulty tolerating exercise may be early symptoms. People with MELAS syndrome have an accumulation of lactic acid in the blood (lactic acidosis), that can lead to vomiting, abdominal pain, fatigue, muscle weakness and difficulty breathing.
What is a diagnosis of MELAS?
Diagnosis. Diagnosis of MELAS usually begins with a physical exam and a review of the patient’s medical history and symptoms. The only way to positively diagnose MELAS is through genetic testing. Clinical tests to help diagnose the condition may include imaging, muscle biopsies, or measuring lactic acid in the muscles.
How is MELAS syndrome inherited?
The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children.
What organelle does MELAS syndrome affect?
MELAS syndrome is caused by mutations in the genetic material (DNA) in the mitochondria. While most of our DNA is in the chromosomes in the cell nucleus, some of our DNA is in another important structure called the mitochondrion (plural: mitochondria).
How long can you live with Melas syndrome?
MELAS typically presents during childhood, although symptoms can appear as early as before age 2 or as late as after age 40. Over time, it results in neurological impairment and is often fatal. Most individuals survive ~17 years following the onset of seizures or other problems of the nervous system.
Is MELAS a mitochondrial disease?
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial disease primarily affecting the nervous system and muscles. MELAS presents in children or young adults as recurrent episodes of encephalopathy, myopathy, headache, and focal neurological deficits.
How long can someone live with MELAS?
At what age is mitochondrial disease diagnosed?
Mitochondrial disease diagnosis Every 30 minutes, a child is born who will develop a mitochondrial disorder by age 10. Overall, approximately 1 in every 4,300 individuals in the United States has a mitochondrial disease.
