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MIRAS Long Name: Mitochondrial Recessive Ataxia Syndrome. Symptoms: encephalopathy, balance problems, ataxia, epilepsy, cognitive impairment,...

What are ARS Disorders (mtARS)? Mitochondrial ARS (Aminoacyl-tRNA Synthetase) Disorders (mtARS)  are a group of rare genetic conditions caused...

Mitochondrial DNA Depletion Symptoms: Three forms:  Infantile myopathy Following normal early development until one year old, weakness...

What is Mitochondrial DNA Deletion Disease? See related disease: KSS, CPEO A common form of mitochondrial disease results from absence (or...

Mitochondrial Encephalopathy Includes: Encephalomyopathy, Encephalomyelopathy NIH Link:...

What is MNGIE? Mitochondrial neurogastointestinal encephalomyopathy (MNGIE) is a mitochondrial disease that primarily impacts the digestive and...

NARP Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa Cause: Mitochondrial DNA point mutations in genes associated with Complex V:...

What is Pearson Syndrome? Pearson syndrome is a mitochondrial DNA deletion syndrome with the onset in the first six months of life that...

What is PolG? See related: CPEO, Mitochondrial Deletion Syndrome RELATED POST: A Message from UMDF on the Passing of Prince Frederik. Posted...

For more information on the FDA’s decision on dichloroacetate (DCA) for the treatment of the mitochondrial disease Pyruvate Dehydrogenase...