The Mitochondrial Myopathy Encephalopathy, Lactic Acidosis with Stroke-Like Episodes (MELAS) Syndrome
- weakness that may progress to further deterioration in neuromuscular function.
- Headaches, nausea or vomiting.
- Stroke-like episodes (usually occur before 40 years of age).
- Encephalopathy--> seizures, dementia, or both.
- Lactic Acidosis (other members of faculty noted that they have had cases present in the cath-lab with severe lactic acidosis)
- Normal Weight (cases noted to have BMI of 17-20)...many felt that due to mitochondrial dysfunction, these patients have a high REE.
- Neurosensory deafness (A young man with diabetes, hearing aid, and a mother with diabetes--> what is the mode of inheritance?).
- Diet: primary mode of therapy
- Exercise: not as effective since most have some form of myopathy
- Sulfonylureas: good choice
- Metformin: should be avoided due to high rate of lactic acidosis
- TZD: again most faculty would avoid due to high prevalence of cardiomyopathy and risk of further worsening heart failure.
- Insulin: good choice as well.