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Neuromuscular disorders and AADC deficiency

  • Neuromuscular disorders and AADC deficiency have a number of overlapping signs and symptoms, meaning it can be difficult to tell them apart
  • On this page you will learn more about neuromuscular disorders including how it is similar to AADC deficiency and how it is different

What are neuromuscular disorders?

  • The neuromuscular system is made up of muscles and nerves that carry signals from the brain, allowing movement
  • Neuromuscular disorders happen when there is a problem in the function of your muscles because the muscles themselves do not work correctly, or there is an issue with the nerves that deliver the messages to them
  • There are many different neuromuscular disorders depending on what has gone wrong
  • Like AADC deficiency, many neuromuscular disorders are genetic disorders, meaning they are passed from parents to children
  • It is thought that between 1 and 10 in every 100,000 people have a neuromuscular disorder 

What are the signs and symptoms of neuromuscular disease?

  • There are different types of neuromuscular disorder, and people can have a range of different signs and symptoms
  • These can include:
    • Muscle weakness
    • Problems with moving
    • Skeletal deformities
    • Balance problems
    • Delays in development
    • Droopy eyelids
    • Changes in sensation, such as numbness, tingling or pain

How are neuromuscular disorders and AADC deficiency similar and how are they different?

  • Some of the signs and symptoms of neuromuscular disorders and associated neuromuscular weakness may also appear in other conditions including:
  • In babies, some of the symptoms of AADC deficiency such as developmental delay, involuntary muscle contractions that cause slow repetitive movements or abnormal postures (also known as dystonia), drooping eyelids (also known as ptosis) or floppiness (also known as low muscle tone or hypotonia) can look like neuromuscular disorders
  • While neuromuscular disorders and AADC deficiency can have different signs and symptoms, some of the similarities and differences between these conditions are shown below. Click the icons for more information: 
Developmental delay
Neuromuscular disorders - Hypotnoia
Neuromuscular disorders - Akinesia
Neuromuscular disorders - Myoclonus
Neuromuscular disorders - Ptosis
Oculogyric crisis
Neuromuscular disorders - Oculogyric crisis
Autonomic dysfunction
Autonomic function
  • When there is a delay to a diagnosis of AADC deficiency, or it is incorrectly diagnosed, treatment and appropriate management of this condition are delayed
  • If your child is displaying any of the symptoms listed of AADC deficiency or neuromuscular disorders, talk to your child’s doctor

GL-AADC-0986 | February 2022

Welcome to About AADC

A website for parents and caregivers of children with AADC deficiency, and members of the public interested in the condition. This website has been provided by PTC Therapeutics.

This educational website provides information to support awareness of a rare neurotransmitter disorder called aromatic L-amino acid decarboxylase (AADC) deficiency.