Aromatic L-amino acid decarboxylase (AADC) deficiency is characterized by impaired signaling between the nervous system and the rest of the body due to a deficiency in neurotransmitters, or cell signaling molecules such as dopamine and serotonin.

This deficiency leads to disease symptoms, of which movement difficulty due to muscle stiffness and hypotonia (poor muscle tone) is prominent.

What is physiotherapy?

Physiotherapy is part of a treatment plan for AADC deficiency that aims at improving muscle tone — muscle tension — and enabling greater freedom of movement.

Physiotherapists work with patients and their doctors to set up an exercise regimen that helps to regain movement and improve quality of life. Daily exercises are constructed with a patient’s symptoms and their severity in mind.

Physiotherapy may be combined with occupational therapy to ensure that the patient can perform daily activities with more ease.

People are advised to consult a physiotherapist as soon as AADC deficiency is diagnosed to prevent further loss of muscle tone and strength.

How can physiotherapy help?

People with AADC deficiency often have such movement-related symptoms such as hypokinesia (slowed movements), chorea (involuntary movements), dystonia (involuntary muscle contractions, leading to abnormal postures or repetitive movements), and hypotonia (low muscle tone). In many cases, muscles of the mouth and throat (such as the tongue and pharynx), and respiratory muscles, are also affected.

A physiotherapist thoroughly assesses the symptoms and works out a detailed exercise plan so that patients can work toward overcoming movement-related problems without injury. The physiotherapist personally supervises the exercises and corrects them as needed, while teaching the patient ways of maintaining or improving posture and balance. Supervision by a physiotherapist or a caregiver is necessary until the patient is fully comfortable with the exercises.

Depending on a person’s symptoms, physiotherapists may also give specific exercises aiming to improve hand-eye coordination, hand movement, and head control. For those with walking difficulties due to weak leg muscles, orthotic braces or other adaptive aids may be recommended to minimize the risk of pain and injury.

People with AADC deficiency may also have problems with sleeping and breathing (noisy breathing or stridor). A physiotherapist can recommend appropriate sleeping postures to best avoid muscle strain and injury during sleep. Breathing exercises that help the lungs to work more efficiently may also be advised.

 

Last updated: Sept. 16, 2019

***

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.

Total Posts: 0
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.