![]() Neuropathy, ataxia, and retinitis pigmentosa, Leber hereditary optic neuropathy, Ataxia and polyneuropathy, adult-onset, Cardiomyopathy, infantile hypertrophic, Leigh syndrome, Striatonigral degeneration, infantile, mitochondrialĬardiomyopathy, apical hypertrophic, and neuropathy, Cardiomyopathy, infantile hypertrophic Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease Mitochondrial DNA depletion syndrome, Portal hypertension, noncirrhotic, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 Spastic paraplegia, Combined oxidative phosphorylation deficiency Perrault syndrome, Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 Nuclear encoded genes associated with multiple mtDNA deletions or mtDNA depletion include POLG, POLG2, C10orf2, SLC25A4 (autosomal progressive external ophthalmoplegia), TYMP (mitochondrial neurogastrointestinal encephalomyopathy), POLG (Alpers-Huttenlocher syndrome), POLG, C10orf2, OPA1 (ataxia neuropathy syndromes 2), TK2 (infantile myopathy / spinal muscular atrophy), DGUOK (encephalomyopathy and liver failure), SUCLA2 (hypotonia, movement disorder, and/or Leigh syndrome with methylmalonic aciduria) and RRM2B (hypotonia, encephalopathy, renal tubulopathy, lactic acidosis).Ītaxia, early-onset, with oculomotor apraxia and hypoalbuminemia There are some preliminary treatments that have shown to reduce symptoms but currently no curative treatment for any form of MDSs is available. However some patients have survived into puberty with a myopathic variant and some into adulthood with a SUCLA2 encephalomyopathic variant. Typically, the condition is fatal in infancy or early childhood. These syndromes affect tissue found in the muscle, liver, or both the muscle and brain, respectively. ![]() ![]() Symptoms may manifest as myopathic (mutations in TK2, RRM2B and AG), encephalomyopathic ( SUCLA2, SUCLG1, and RRM2B) hepatocerebral ( DGUOK, MPV17, POLG and C10ORF2), and/or neurogastrointestinal ( TYMP). Mitochondrial DNA depletion syndrome (MDS) refers to a group of disorders which cause the affected tissues to suffer from a significant drop in mitochondrial DNA.
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