Latest News -Mitochondrial Disease Types

What is MIDD? Maternally inherited diabetes and deafness (MIDD) is a subtype of mitochondrial disease that is associated with specific...

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

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

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

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 PDCD? Pyruvate dehydrogenase complex (PDC) deficiency (also known as PDC deficiency, or more commonly PDCD) is a rare mitochondrial...

What is PolG? PolG disease is a mitochondrial disorder caused by mutations in the POLG gene[1]. It typically affects multiple organs, primarily...