News

Researchers classified variants of the DDC gene that causes AADC deficiency according to their disease-causing potential, a study reported, the first study to identify and characterize previously unknown DDC variants. “Given that genetic testing is a core diagnostic test for AADC deficiency, a comprehensive catalogue of the genetic variants…

A review of recent medical literature confirmed low muscle tone, developmental delays, and oculogyric crises — when the gaze becomes fixed upward due to spasms in the eye muscles — are all hallmark signs of aromatic l-amino acid decarboxylase (AADC) deficiency, with symptom onset occurring within 6 months of…

Since its founding more than 25 years ago, Eurordis has presented and promoted initiatives to ensure that people with rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, are at the heart of treatment development. That work continues — and indeed, Eurordis is stepping up its…

An upcoming U.S. survey, reported to be the first of its kind, aims for a better understanding of barriers to healthcare access and affordability among rare disease patients and caregivers in racial minority or other marginalized groups, and to help inform ways to remove them. The initiative is led by…

Global Genes and the Rare Disease Diversity Coalition (RDDC) have launched Know Your Family History, an initiative to raise awareness of the importance of learning about the health and medical histories of one’s relatives. The project’s aim is to create a path toward…

While the National Organization for Rare Disorders (NORD) is pleased Congress voted to reauthorize the Food and Drug Administration’s (FDA) user fee program — as part of a U.S. government short-term spending package (HR 6833) — it noted the legislation falls short in areas important to…

A new mutation in the DDC gene was identified as the cause of aromatic L-amino acid decarboxylase (AADC) deficiency in a baby boy in the United Arab Emirates (UAE), scientists report. This marks the first documented case of AADC deficiency in the UAE and one of the few reported in the…

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…

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…