Symptoms associated with AADC deficiency

AADC deficiency presents early in life with hypotonia, hypokinesia, oculogyric crisis, autonomic dysfunction, dysphoric mood, and sleep disturbance. There may be a number of movement disorders, most frequently dystonia. Diurnal fluctuation and improvement of symptoms after sleep is a characteristic of AADC deficiency.  The majority of affected children show minimal motor development in the absence of treatment.

The presentation of symptoms is variable and there are variable degrees of severity

Neonatal Period

Feeding difficulties

Autonomic dysfunction

Hypotonia

Motor symptoms

Axial hypotonia (decreased tone or floppy - trunk, head and limbs)

Limb hypertonia (increased tone to the limbs)

Fluctuating limb tone

Hypokinesia (decreased spontaneous movements)

Oculogyric crises (a spasmodic attack and fixation of the eyeballs upwards)

Other movement disorders

Limb dystonia (disorder of muscle control)

Stimulus-provoked dystonia

Cervicofacial dystonia

Myoclonus/prominent startle

Distal chorea

Choreoathetosis

Athetosis

Parkinsonism

Flexor spasms

Tremor

Drug-induced dyskinesias

Chorea

Dystonia (disorder of muscle control)

Diurnal

variation/improvement of

neurologic symptoms after

sleep

Autonomic dysfunction

Diaphoresis

Temperature instability

Nasal congestion

Ptosis/pupillary changes (droopy eyelids)

Hypotension/bradyarrhythmia

RAD/GI dysmotility (Gastrointestinal symptoms including gastroesophageal reflux, constipation, diarrhoea and dysmotility and absorption (inability to pass food through the gastrointestinal tract because muscles do not work properly)),

Dysphoria general feeling of unwell, unhappy and emotional lability

Sleep disturbance