Leber hereditary optic neuropathy with dystonia
Alternate names
LHON and dystonia; Leber optic atrophy and dystonia; LDYT; Marsden syndrome; Dystonia familial, with visual failure and striatal lucencies; Leber's hereditary optic neuropathy with dystonia
Definition
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 uncontrolled movements.
Cause
It is caused by mutations in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6.
Signs and symptoms
- LHON associated with dystonia, which involves involuntary muscle contractions, tremors, and other unctrolled movements.
- 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.
Diagnosis
Treatment
NIH genetic and rare disease info
Leber hereditary optic neuropathy with dystonia is a rare disease.
Resources
Frequently asked questions
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