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Table 3 Symptoms and signs described in AADC deficiency

From: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

  Symptom/ sign Neo natal Infancy Child hood Adolescence Adulthood
CNS Tone regulation Floppy infant + ++    
Hypotonia (mainly truncal) + ++ ++ ++ ++
Poor head control + + + + +
Hypertonia (mainly limbs) + + + + +
Movement disorders Dyskinesia (eg hyperkinesia, chorea, athetosis) ± + + + +
Dystonia - ++ ++ ++ ++
Oculogyric crisis ± ++ ++ ++ ++
Hypokinesia and/ or bradykinesia ± ++ ++ ++ ++
Myoclonus ± ± ± ± ±
Tremor ± ± ± ± ±
Developmental Delay Delayed motor development ± ++ ++ ++ ++
Delayed cognitive development   ± + + +
Delayed speech development   ± + + +
Behavioural Problems Irritability ++ ++ + + +
Autistic features    ± ± ±
Dysphoria/ Mood problems ± ± ± ± ±
Excessive crying + ++ + - -
Sleeping Problems Insomnia and or hypersomnia   + + + +
Other Epileptic seizures - ± ± ± ±
Fatiguability ± ± ± ± ±
Diurnal fluctuation   ± ± ± ±
Dysarthria    ± ± ±
Poor eye fixation   + + + +
Increased startle ± ± ± ± ±
ANS Eyes Ptosis + + + + +
Miosis ± ± ± ± ±
Upper respiratory tract Nasal congestion - + + ± ±
Excessive drooling - + + ± ±
Stridor ± ± ± ± ±
Skin Excessive sweating - + + + +
Homeostasis Temperature instability + + + + +
Cardiovascular (Orthostatic) Hypotension - - ± + +
Bradycardia ± ± ± ± ±
Heart rhytm abnormalities ± ± ± ±  
Gastrointestinal Diarrhea ± + + + ±
Obstipation ± + + + ±
Metabolic/ endocrine Hypoglycemia ± ± ± - -
Hyperprolactinemia ± ± ± ± ±
General Feeding/ Swallowing Problems + + + + +
Gastrointestinal reflux + + + ± ±
Gastrointestinal problems unspecified + ++ + + +
Failure to thrive ± + + +  
Contractures - - - ± ±
Small hand and feet ± ± ± ± ±
  1. Best available evidence for all published clinical symptoms and the age of occurrence (additional literature used: [77]). CNS Central Nervous System. ANS autonomic nervous system. ++ very often (key symptom); + often; ± sometimes; - not expected