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Symptoms that mimicked epilepsy led to the misdiagnosis of a Chinese infant girl with aromatic l-amino acid decarboxylase (AADC) deficiency, a case study reported. The researchers noted the case emphasizes the difficulty distinguishing between epileptic episodes, or seizures, and oculogyric crisis — a common symptom of AADC…
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People with AACD deficiency commonly experience emotional problems and intellectual disability, though the severity of cognitive impairment varies markedly among patients, a new study indicates. “Our study provides further evidence that AADCD requires specific neurological and neuropsychological assessments to monitor the disease,” the study’s researchers wrote. The study, “Long-term…
A free live webinar on Sept. 20 will explore various aspects of rare disease clinical trials — and offer insight into the challenges researchers face in finding and enrolling participants, particularly those of diverse backgrounds. Those interested in attending can register now for the hour-long webinar, titled “Rare Disease…
Columnist Richard E. Poulin III shares the music therapy approaches that have helped his young daughter improve various skills.
Check out AADC News’Â collection of Health Insights, where you can find a variety of information relevant for patients and caregivers.
Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic and neurometabolic disease that affects the nervous system. Learn more about the disease here.
AADC deficiency can affect many aspects of a person’s life, including mobility, breathing, sleeping, and eating. Learn more here about different ways to manage the condition, adapt, and handle everyday tasks.
There is not yet a cure for AADC deficiency, but there are approved treatments that can help manage the condition, as well as experimental treatments in the pipeline. Learn more about treating the disease here.
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