Leber Optic Atrophy and Dystonia (LDYT)

Alias:
Marsden Syndrome
Ldyt
Familial Dystonia with Visual Failure and Striatal Lucencies
Leber Hereditary Optic Neuropathy with Dystonia
Leber Hereditary Optic Neuropathy and Dystonia
Dystonia, Familial, with Visual Failure and Striatal Lucencies
Leber Optic Atrophy with Dystonia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Optic Atrophy and Dystonia, also known as marsden syndrome, is related to hereditary optic neuropathy and neuropathy, and has symptoms including athetosis, dystonia and muscle spasticity. 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 Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skeletal muscle and eye, and related phenotypes are intellectual disability and spasticity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Mit
Unknown
--
10
67
17

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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