Leber Optic Atrophy and Dystonia (LDYT)

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Disease Ontology 12 DOID:0111755 OMIM® 57 500001 KEGG 36 H01365 MeSH 44 D029242

MedGen 41 C1839040 SNOMED-CT via HPO 68 103252009 111266001 221360009 228156007 247578003 288939007 302226006 386033004 397790002 399317006 40739000 42658009 44913001 52448006 58593005 58610003 64217002 74035001 76976005 7973008 8011004 91138005 more UMLS 70 C1839040

GARD : ²⁰ Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements. It is caused by mutations in one of three mitochondrial genes : MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood.

MalaCards based summary : Leber Optic Atrophy and Dystonia, also known as marsden syndrome, is related to hereditary optic neuropathy and neuropathy, and has symptoms including dystonia, athetosis and bradykinesia. An important gene associated with Leber Optic Atrophy and Dystonia is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Oxidative phosphorylation and Prion disease. Affiliated tissues include eye, skeletal muscle and pancreas, and related phenotypes are intellectual disability and spasticity

Disease Ontology : ¹² A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has material basis in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.

KEGG : ³⁶ Leber hereditary optic neuropathy and dystonia (LDYT) is a maternally-inherited mitochondrial disorder characterized by variable combinations of visual loss and progressive generalized dystonia. LDYT is a unique oxidative phosphorylation disorder caused by mutations in mitochondrial DNA.

UniProtKB/Swiss-Prot : ⁷² Leber hereditary optic neuropathy with dystonia: Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia.

More information from OMIM: 500001

Clinical features from OMIM®:

500001 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Leber Optic Atrophy and Dystonia

Search GEO for disease gene expression data for Leber Optic Atrophy and Dystonia.