Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder characterized by muscle weakness, uncontrollable movements, and developmental delays. Many patients with the deficiency experience painful “episodes” called oculogyric crises in which muscles cramp or move uncontrollably. Some patients may also experience epileptic seizures. Physiotherapy…
As a parent, learning that your child has a rare disease like aromatic L-amino acid decarboxylase (AADC) deficiency can be very difficult. One of the first questions parents often ask is what the diagnosis means for their child’s future and how the disease is going to affect their life…
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder that affects the nervous system and hinders the ability of its cells to communicate with the body. It leads to a variety of symptoms, including severe developmental delay, weak muscle tone, muscle stiffness, and difficulty moving. Symptoms can appear…
Caring for a child with a developmental disorder such as aromatic L-amino acid decarboxylase (AADC) deficiency can be challenging, with parents and caregivers having to deal with issues such as speech and language delays. Speech and language delays in children When children experience speech and language delays, they…
Being the parent of someone with a chronic disease such as aromatic L-amino acid decarboxylase (AADC) deficiency can be exhausting and challenging. Many parents and caregivers also worry about what will happen to their child if they are unable to care for them. If you have a child with…
Being the parent or caregiver of a patient with a chronic disease such as aromatic L-amino acid decarboxylase (AADC) deficiency can be an exhausting and stressful job. Stress can be a contributing cause of anxiety and depression, among other problems. It is important for parents and caregivers to…
Aromatic L-amino acid decarboxylase (AADC) deficiency is a genetic disorder that affects brain development, and causes physical and developmental delays in children. School and daycare can be challenging for children with AADC deficiency, but social interaction is important for any child’s development. One of the tools that parents and…
Gene therapy — replacing a faulty gene in the body — may hold the answers to the permanent treatment of aromatic l-amino acid decarboxylase (AADC) deficiency This rare genetic disorder is caused by mutations in the gene that provides cells with the instructions they need to make a…
Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare disease that affects children from birth. Patients are often mentally and physically challenged. For parents and caregivers, taking care of a child with a rare disease can be very challenging. Here are some tips to help you manage stress: Find…
Since eating can be difficult for children with aromatic L-amino acid decarboxylase (AADC) deficiency, it’s important to have a good diet and nutrition plan in place for them. That will ensure children get all the nutrients they need, even if they aren’t eating as much. Children with AADC deficiency…
Get regular updates to your inbox.