Diabetes mellitus and deafness (DAD)
·
This combination at an early age can be due to
mitochondrial disease
·
Diabetes mellitus and deafness can also be found
together for other reasons
Leber's hereditary optic neuropathy (LHON)
·
visual loss beginning in young adulthood
·
eye disorder characterized by progressive loss
of central vision due to degeneration of the optic nerves and retina
Wolff-Parkinson-White syndrome
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Multiple sclerosis-type disease
·
Affects 1 in 50,000 people in Finland
Leigh syndrome, subacute sclerosing encephalopathy
·
After normal development the disease usually
begins late in the first year of life, although onset may occur in adulthood
·
A rapid decline in function occurs and is marked
by seizures, altered states of consciousness, dementia, ventilatory failure
Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
·
progressive symptoms as described in the acronym
·
dementia
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
·
Gastrointestinal pseudo-obstruction
·
Neuropathy
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
·
Progressive myoclonic epilepsy
·
"Ragged Red Fibers" – clumps of
diseased mitochondria accumulate in the subsarcolemmal region of the muscle
fiber and appear as "Ragged Red Fibers" when muscle is stained with
modified Gömöri trichrome stain
·
Short stature
·
Hearing loss
·
Lactic acidosis
·
exercise intolerance
Mitochondrial myopathy, encephalomyopathy, lactic acidosis,
stroke-like symptoms (MELAS)
·
mtDNA depletion
·
mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE)
