| Main clinical features
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L-dopa-responsive dystonia is characterized by the triad of dystonia, diurnal fluctuation of signs, and dramatic response of signs to low-dose L-dopa the
psychomotor retardation, spasticity, dystonia, microcephaly, growth retardation and deficiency of monoamine neurotransmitter
dopa-responsive dystonia, neurologic deterioration due to severe dopamine and serotonin deficiencies in the central nervous system caused by a defect in BH4 synthesis
diurnally fluctuating movement disorder usually associated with cognitive delay and severe neurologic dysfunction
misdiagnoses of cerebral palsy (CP) are common, but biochemical investigation of cerebrospinal fluid is the preferred method of initial investigation (PMID: 22522443)) |