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PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1

PARKINSONISM-DYSTONIA, INFANTILE, 1; PKDYS1
DOPAMINE TRANSPORTER DEFICIENCY SYNDROME; DTDS
613135
OMIM = Online Mendelian Inheritance of Men
238455
Sodium-dependent dopamine transporter
5p15.33
rare
autosomal recessive
mutation in the SLC6A3 gene
- early onset (infancy)
- later onset (childhood - adulthood)
Laboratory findings    3-Methoxy-4-hydroxyphenylglycol (MHPG, MOPEG) inc (cerebrospinal fluid)
    Homovanillic acid (HVA) inc (cerebrospinal fluid)
Symptoms    chorea or athetosis
    constipation
    developmental delay
    drooling
    dyskinesia
    dystonia
    eye movements, abnormal
    feeding difficulties, poor feeding
    gastroesophageal reflux
    irritability
    oculogyric crisis
    onset, adolescent
    onset, childhood
    onset, infancy
    Parkinsonism
    pyramidal signs
    tremor or twitching