What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?

What’s a Dystonic Crisis with AADC Deficiency, and How to Deal With It?
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Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that affects the nervous system. The disease can lead to seizures, muscle weakness, and other symptoms.

Having an infection or changing medications can cause what is known as a dystonic crisis, a rare but serious complication.

What is a dystonic crisis?

A dystonic crisis is an episode in which the muscles contract very strongly, and in patterns, randomly, or as a continuous cramp. The severity may make patients twist, assuming strange postures. These muscle contractions can cause the airways to close. Prolonged cramping of muscles can also cause a condition called rhabdomyolysis, in which muscle damage leads to acute kidney failure.

A dystonic crisis is a serious emergency. If you believe that your child is having a dystonic crisis, you must get help as quickly as possible.

What causes a dystonic crisis?

Some medication changes can cause a dystonic crisis, although it isn’t clear why. There’s a reported case of dystonic crises in an AADC deficiency patient when doctors stopped the use of tranylcypromine. Tranylcypromine is a medication that slows the breakdown of neurotransmitters in the brain, and normally prescribed to treat depression. In AADC deficiency, it may be given to ease disease symptoms.

Some infections may also cause a dystonic crisis. It’s not clear how this occurs, but this crisis is more common in patients who have movement disorders like AADC deficiency.

How is a dystonic crisis treated?

Doctors treat a dystonic crisis in AADC deficiency in the same way as in other cases. They admit patients to an intensive care unit, and give them intravenous fluids and nutrients. They may sedate the patient with a class of medications called benzodiazepines (these include diazepam and alprazolam, for example).

If the patient is having trouble breathing, the doctors will provide respiratory support. This might be oxygen treatment, so that each breath contains more oxygen than normal, or use of a ventilator, which forces the lungs to expand and contract, mechanically breathing for the person.

What should I take to the emergency room?

Because AADC deficiency is so rare, many healthcare professionals (especially in an emergency room) may not have heard of the disease before. It’s a good idea to have your child’s medical history and treatment plan together with your health insurance information. This way, you will have everything with you that emergency personnel may need to see.

 

Last updated: May 5, 2020

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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 health provider 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.

Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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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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Emily holds a Ph.D. in Biochemistry from the University of Iowa and is currently a postdoctoral scholar at the University of Wisconsin-Madison. She graduated with a Masters in Chemistry from the Georgia Institute of Technology and holds a Bachelors in Biology and Chemistry from the University of Central Arkansas. Emily is passionate about science communication, and, in her free time, writes and illustrates children’s stories.
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