Diabetes mellitus and deafness (DAD)
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This combination at an early age can be due to
mitochondrial disease
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Diabetes mellitus and deafness can also be found
together for other reasons
Leber's hereditary optic neuropathy (LHON)
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visual loss beginning in young adulthood
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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
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Affects 1 in 50,000 people in Finland
Leigh syndrome, subacute sclerosing encephalopathy
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After normal development the disease usually
begins late in the first year of life, although onset may occur in adulthood
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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)
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progressive symptoms as described in the acronym
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dementia
Myoneurogenic gastrointestinal encephalopathy (MNGIE)
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Gastrointestinal pseudo-obstruction
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Neuropathy
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
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Progressive myoclonic epilepsy
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"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
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Short stature
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Hearing loss
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Lactic acidosis
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exercise intolerance
Mitochondrial myopathy, encephalomyopathy, lactic acidosis,
stroke-like symptoms (MELAS)
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mtDNA depletion
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mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE)