1. The Facts

    The Facts

    The links within AADC are provided to inform the reader more about the disease. Please use the medline link and dictionary to help with terminology and words you do not understand.

    Links

  2. Neurotransmitters

    Neurotransmitters

    The links within AADC are provided to inform the reader more about the disease. Please use the medline link and dictionary to help with terminology and words you do not understand.

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  3. Symptoms


    Symptoms

    The links within AADC are provided to inform the reader more about the disease. Please use the medline link and dictionary to help with terminology and words you do not understand.

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  4. Diagnosing


    Diagnosing

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  5. Treating


    Treating

    The links within AADC are provided to inform the reader more about the disease. Please use the medline link and dictionary to help with terminology and words you do not understand.

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  6. A Family Affected


    A Family Affected

    The links within AADC are provided to inform the reader more about the disease. Please use the medline link and dictionary to help with terminology and words you do not understand.

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The 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

Contact Information

  • E-mail: enquiries@aadcresearchtrust.org
  • Telephone: +44 (0) 208 651 6450
  • Address: The AADC Research Trust, t/as eBear's Attic Tea Room & Charity Boutique, 320 Limpsfield Road, Warlingham, Surrey CR2 9BX