Fatigue is a common symptom of AADC deficiency. It is defined as a feeling of exhaustion that reduces energy levels, motivation, concentration, and the ability to perform daily activities. Fatigue can also adversely affect mood, attention span, memory, cognitive, and communication skills.

How does AADC deficiency cause fatigue?

Patients with AADC deficiency have severe deficits in cell signaling or neurotransmitter molecules in the brain such as dopamine and serotonin because the enzyme that synthesizes them is defective or not made at all due to genetic mutations. These neurotransmitters are required to relay information between nerve cells and the muscles so that the muscles can contract and relax efficiently.

This deficit in neurotransmitters in AADC deficiency causes problems in the communication between the nervous system and muscles. Over time, the muscles become weak and cannot generate enough force to perform daily tasks. This leads to chronic fatigue, among other symptoms.

Other reasons for fatigue in AADC deficiency include:

  • Sleep problems, including sleep apnea;
  • Heart rate problems and low blood pressure;
  • Hypoglycemia, or low blood sugar;
  • Gastrointestinal issues such as diarrhea, constipation, and gastroesophageal reflux disease.

Managing fatigue 

There are several strategies available for patients with AADC deficiency to overcome fatigue.

Diet and nutrition

Improved diet and nutrition can help children with AADC deficiency have more energy. This is especially important because patients may have difficulties eating and other issues such as GERD that can affect their energy levels.

Adding nutritional supplements such as folic acid, coenzyme Q10 (CoQ10), and Vitamin B6 to the diet can improve neuromuscular function and reduce fatigue. It is important to remember that vitamins and supplements should never be used before consulting with a doctor.

Physiotherapy and occupational therapy

Physiotherapy, including low-intensity exercise, can help overcome fatigue by improving muscle tone and strength. Aerobic exercise may be beneficial because it can increase blood flow, boost energy levels, and improve mood and sleep quality.

Occupational therapists can suggest and teach energy conservation techniques so that patients can perform everyday tasks more efficiently and prevent fatigue.

Medical treatments

Treatments prescribed by the healthcare provider to help restore or improve the levels of  neurotransmitters can have positive effects on fatigue by improving muscle function and strength, as well as reducing stress and anxiety.

 

Last updated: Sept. 26, 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 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.

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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.