Mitochondrial DNA depletion syndrome
MONDO:0018158The mitochondrial DNA (mtDNA) depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues without mutations or rearrangements in the mtDNA. MDS is phenotypically heterogeneous, and can affect a specific organ or a combination of organs, with the main presentations described being either hepatocerebral (i.e. hepatic dysfunction, psychomotor delay), myopathic (i.e. hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (i.e. hypotonia, muscle weakness, psychomotor delay) or neurogastrointestinal (i.e gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset spastic ataxia-neuropathy syndrome), and Alpers syndrome.
Also known as: mtDNA depletion syndrome
20 clinical trials for this condition and its sub-types, 3 tagged with Mitochondrial DNA depletion syndrome itself.
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Browse by category →Sub-types of Mitochondrial DNA depletion syndrome
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Mitochondrial DNA depletion syndrome, hepatocerebral form 0 trials · 4 incl. sub-types
5 sub-types
- Mitochondrial DNA depletion syndrome 4a 3 trials
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 1 trial
- Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 0 trials
- Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 0 trials
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 0 trials
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2 sub-types
- Optic atrophy 12 0 trials
- Spastic ataxia 5 0 trials
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Sengers syndrome 0 trials