AADACL2-AS1


Title: Unraveling AADC Deficiency: A Rare Disorder Affecting Dopamine Production

Description

AADC deficiency, also known as aromatic L-amino acid decarboxylase deficiency, is a rare genetic disorder characterized by impaired production of dopamine, a neurotransmitter crucial for brain function. This deficiency results in a spectrum of neurological symptoms, primarily affecting movement, mood, and cognitive abilities.

Associated Diseases

AADC deficiency is associated with various neurological conditions, including:

  • Parkinsonism: A condition marked by tremors, stiffness, and impaired balance, similar to Parkinson's disease
  • Dystonia: Involuntary muscle contractions causing abnormal postures or movements
  • Oculogyric crises: Sustained upward rolling of the eyes
  • Developmental delay: Impaired milestones in motor, speech, and cognitive skills
  • Intellectual disability: Difficulty with learning, problem-solving, and social interaction

Did you Know ?

AADC deficiency occurs in approximately 1 in 100,000 individuals worldwide.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.