Oculogyric crises are a characteristic symptom of aromatic L‐amino acid decarboxylase (AADC) deficiency, a neuromuscular condition caused by a mutation in the dopa decarboxylase (DDC) gene.

What are oculogyric crises?

Oculogyric crises are eye movement disorders in which the gaze is involuntarily fixed upward due to spasms in the eye muscles that support eye movement.

Patients are unable to move their eyes away during oculogyric crises.

Oculogyric crises are usually accompanied by an open mouth, protruding tongue, restricted neck movement, and lip-smacking.

Oculogyric crises can last for minutes in the early stages of AADC deficiency. However, as the condition progresses, these episodes may last for hours.

Anxiety and emotional outbursts often accompany oculogyric crises. The duration and accompanying symptoms are patient-specific and may vary from episode to episode.

How does AADC deficiency lead to oculogyric crises?

The underlying cause of oculogyric crises in AADC deficiency is unclear. However, it has frequently been linked to decreased levels of the neurotransmitter dopamine. The AADC enzyme is essential for the synthesis of dopamine.

In AADC deficiency, a mutation in the DDC gene leads to insufficient production of the AADC enzyme, which in turn affects the production of dopamine and may trigger oculogyric crises.

One of the main functions of dopamine is to relay nervous signals from the brain to the rest of the body. Dopamine also regulates several eye functions, such as response to light, visual communication, eye development, and muscle coordination. Therefore, an imbalance in dopamine levels may lead to eye problems, including oculogyric crises.

Other information

The management of oculogyric crises is patient-specific and usually revolves around correcting dopamine balance. Anticholinergic agents that control muscle spasms can also be used.

Oculogyric crises have been reported in other neurometabolic conditions like tyrosine hydroxylase deficiency, Wilson’s disease, and Parkinson’s disease. They can also be triggered by neuroleptic or antipsychotic medications.

 

Last updated: Sept. 17, 2019.

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AADC News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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Özge has a MSc. in Molecular Genetics from the University of Leicester and a PhD in Developmental Biology from Queen Mary University of London. She worked as a Post-doctoral Research Associate at the University of Leicester for six years in the field of Behavioural Neurology before moving into science communication. She worked as the Research Communication Officer at a London based charity for almost two years.
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Vijaya Iyer is a freelance science writer for BioNews Services. She has contributed content to their several disease-specific websites, including cystic fibrosis, multiple sclerosis, muscular dystrophy, among others. She holds a PhD in Microbiology from Kansas State University, where her research focused on molecular biology, bacterial interactions, metabolism, and animal models to study bacterial infections. Following the completion of her PhD, Dr. Iyer went on to complete three postdoctoral fellowships at Kansas State University, University of Miami and Temple University. She joined BioNews Services to utilize her scientific background and writing skills to help patients and caregivers remain abreast with important scientific breakthroughs.
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