Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare and inherited disease characterized by low muscle tone and muscle stiffness that makes movement difficult. The condition is also marked by a lack of energy, sleep disturbances, feeding problems, muscle spasms, and uncontrolled movements.

There are aids and adaptations that can be prescribed to help patients with AADC deficiency and improve their quality of life. These are summarized below.

Orthotic devices

People with AADC deficiency have low muscle tone, which makes walking more difficult. Orthotic devices or orthoses are braces that support muscles while walking or standing.

Ankle-foot orthoses (AFOs) are braces that provide stability to the ankle, foot, and leg below the knee. AFOs are custom-made to meet individual requirements.

Knee-ankle-foot orthoses (KAFOs) resemble AFOs but also cover the knee. They improve joint alignment and stability.

Mobility devices

Mobility aids can facilitate walking and improve mobility. A physiotherapist or occupational therapist can recommend aids based on a patient’s needs, and teach how to use them.

Walkers and canes can relieve stress on muscles during walking. The support they give can also help to prevent falls.

Assistive technology

Assistive technology is a developing field that can provide support to patients with the help of apps and gadgets. One example of useful technology is an automated thermostat that can regulate room temperature, because people with AADC deficiency typically have problems controlling their body temperature.

 

Last updated: Sept. 14, 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.

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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.