Dystonia due to Leigh syndrome (Q89269): Difference between revisions

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Latest revision as of 15:53, 15 August 2026

This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol and genetic testing.

Language	Label	Description	Also known as
default for all languages	ID_256411659
English	Dystonia due to Leigh syndrome	This is a condition presenting between 2-18 month sof age, characterized by decreased concentrations of serotonin and catecholamines. Symptoms may include: hypersalivation, temperature instability, pinpoint pupils, ptosis, oculogyric crises, hypokinesis, distal chorea, truncal hypotonia, swallowing difficulties, drowsiness and irritability. Diagnois is is established by finding low spinal fluid concentrations of homovanilic acid and 3-methoxy-4-hydroxy-phenylglycol and genetic testing.