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

Table 3 Symptoms and signs described in 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	+	+	+	+	+
	Eyes	Miosis	±	±	±	±	±
	Upper respiratory tract	Nasal congestion	-	+	+	±	±
		Excessive drooling	-	+	+	±	±
		Stridor	±	±	±	±	±
	Skin	Excessive sweating	-	+	+	+	+
	Homeostasis	Temperature instability	+	+	+	+	+
	Cardiovascular	(Orthostatic) Hypotension	-	-	±	+	+
		Bradycardia	±	±	±	±	±
		Heart rhytm abnormalities	±	±	±	±
	Gastrointestinal	Diarrhea	±	+	+	+	±
	Gastrointestinal	Obstipation	±	+	+	+	±
Metabolic/ endocrine		Hypoglycemia	±	±	±	-	-
Metabolic/ endocrine		Hyperprolactinemia	±	±	±	±	±
General		Feeding/ Swallowing Problems	+	+	+	+	+
		Gastrointestinal reflux	+	+	+	±	±
		Gastrointestinal problems unspecified	+	++	+	+	+
		Failure to thrive	±	+	+	+
		Contractures	-	-	-	±	±
		Small hand and feet	±	±	±	±	±

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

ISSN: 1750-1172