Catalog

Dystonia due to Leigh syndrome

No MMS code

Link to WHO Definition

Dystonia due to Leigh syndrome – http://id.who.int/icd/entity/256411659

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.