Emily Malcolm, PhD,  —

Medical procedures and tests sometimes require anesthesia, which can be especially challenging for patients with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by reduced activity of the AADC enzyme. When there isn’t enough functional AADC enzyme, the body cannot make enough serotonin and…

Aromatic l-amino acid decarboxylase (AADC) deficiency is an extremely rare disorder that affects the nervous system. The disease can lead to seizures, muscle weakness, and other symptoms. Having an infection or changing medications can cause what is known as a dystonic crisis, a rare but serious complication.

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare genetic disease that affects the nervous system. How do doctors treat AADC deficiency? AADC deficiency is very rare, with only about 100 people with the disease described in studies. This means that it is very difficult for doctors to…

A good support network is important for maintaining your physical and psychological health. Positive support from friends, family, peers, and co-workers can make you more resilient when you experience stress, depression, or anxiety. Although specific studies about support networks in families affected by aromatic L-amino…

Caring for a child with aromatic L-amino acid decarboxylase (AADC) deficiency comes with many challenges. One of the symptoms of AADC deficiency is sleep disturbances, likely due to a decrease in melatonin, a key hormone in regulating sleep cycles. Melatonin is formed from the neurotransmitter or…

Children with aromatic L-amino acid decarboxylase (AADC) deficiency generally have muscle weakness, uncontrollable movements, and developmental delays. Physiotherapy can help patients with AADC deficiency improve strength, coordination, balance, and posture. One type of physiotherapy that may be particularly beneficial is aquatic therapy. What is aquatic therapy?…

Caring for a baby with aromatic l-amino acid decarboxylase (AADC) deficiency can be very difficult. Among other challenges, infants with this disorder are often born with very weak muscle tone, and may have difficulty suckling, swallowing, and nursing. What causes feeding difficulties? Infants with AADC deficiency have weak…

Physiotherapy is among the treatment approaches likely to help people with aromatic L-amino acid decarboxylase (AADC) deficiency, a rare genetic disease characterized by muscle weakness, muscle stiffness, and uncontrollable and involuntary movements, among other symptoms. Here are some tips to help you get your child ready…

Many patients with aromatic L-amino acid decarboxylase (AADC) deficiency are non-verbal and have difficulty communicating with their parents or caregivers. Music therapy may be used to help these patients with their verbal, motor and social skills. What is music therapy? Music therapy is an established health profession in which…

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…