Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities

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OMIM 57 617282 MedGen 42 C4310634 CN239942

MeSH 44 D001480 D009896 D020821 SNOMED-CT via HPO 69 258211005 246635007 397540003 7973008 563001 76976005 85102008 221360009 397790002 8011004 22325002 127324008 17450006 288939007 40739000 271700006 252157006 255314001 9748009 more

OMIM : ⁵⁷ Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an autosomal recessive neurologic disorder characterized by onset of involuntary movements in the first decade of life. Optic atrophy develops around the same time or slightly later. Severity is variable, and some patients lose independent ambulation. Brain imaging shows abnormalities in the basal ganglia. Cognition appears to be unaffected (summary by Heimer et al., 2016). (617282)

MalaCards based summary : Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities, also known as dytoabg, is related to mepan syndrome. An important gene associated with Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities is MECR (Mitochondrial Trans-2-Enoyl-CoA Reductase). Affiliated tissues include brain, skeletal muscle and eye, and related phenotypes are visual impairment and nystagmus

UniProtKB/Swiss-Prot : ⁷⁵ Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities: An autosomal recessive neurologic disorder characterized by childhood- onset dystonia, basal ganglia degeneration and optic atrophy with decreased visual acuity. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYTOABG severity is variable, and some patients lose independent ambulation.

Clinical features from OMIM:

617282

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