Jake's oculogyric crisis without dystonic attacks

AADC deficiency is rare metabolic neurotransmitter disease.

AADC is an essential enzyme, which is involved in the decarboxylation of aromatic amino acids; if the enzyme is defective, formation of the neurotransmitters dopamine and serotonin is impaired and the passage and signalling within the brain is disrupted.

In AADC Deficiency there is a failure to convert the chemicals L-dopa and 5-hydroxytryptophan to the active neurotransmitter chemicals Dopamine and Serotonin. These are two of the brains main neurotransmitters needed for everyday living.

Children with AADC deficiency suffer multiple and profound disabilites. Almost all suffer with oculogyric crisis and in varying degrees. The worst attacks are suffered by severely affected AADC children who can experience their oculogyric crisis with a dystonic attack which causes body stiffness and arching of the spine, this can last up to 8 hours and occur every 3 days.

Children with AADC can be mis-diagnosed with cerebral palsy, mysthernia gravis and seizure disorder to name a few. If you check out our web site www.aadcresearch.org for disease information and if you feel your child could warrant further investigation please feel to contact us at enquiries@aadcresearch.org for information about how to go about it.

Please visit www.aadcresearch.org for more information on this disease

Category:

Science & Technology

Tags:

• AADC
• Aromatic
• Amino
• Acid
• Decarboxylase
• Deficiency
• inherited
• disease
• oculargyric crisis
• OGC
• neurotranmsitter
• dopamine
• serotonin

[bluebrothersi]

i know how this young boy feels. this also happends 2 me with the eyes. im on med and i duno if its the med tht making me do this with my eyes i hope it is as i dont wanna b left like this forever!does this happin 2 n e 1 else thanx u si

[aadcresearch]

Hi...It is possible to suffer a side effect of OGC with the use of some antipsychotic agents...are these what you are taking?

[Julia5589]

Thank you so much for sharing this. It is really useful to us med students to learn what this kind of crisis look like.

[barky66]

Thanks a lot.  I needed to know what "oculogyric crisis" meant, as per our textbook, and had no clue until I saw your video.

[1d9]

Another medical student. Thank you for the video, it helps to see these things.

[TheNandopro]

@kylenejudith1089 dang that really sucks man im sorry :[

[kylenejudith1089]

@bluebrothersi i had a dystonic reaction from compozine. my eyes did the same thing, my neck arched back, my mouth opened really wide and my tongue was sticking out. i had no control over it. i know you posted your comment quite a while ago, but i dont know if you ever found out what caused your reaction.

[onetwentychick]

thank you . it makes it clearer what Oculogyric crisis looks like, compared to what the textbks describe it

[bluebrothersi]

i know wat ur saying but other people mite b going through same stuff thx u