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Cindy Yee Kong mysterious disabling disease took decades before being properly diagnosed and treated. It is called dopa-responsive dystonia ,also known as Tyrosine Hydroxylase deficiency,  "an autosomal recessive disorder resulting from cerebral  catecholamine  deficiency.  Tyrosine hydroxylase helps convert the protein building block (amino acid) tyrosine to L-dopa to a  catecholamine  called dopamine."

"Dopamine transmits signals to help the brain control physical movement and emotional behavior and learning. It helps control the   brain's reward and pleasure centers and enables us not only to see rewards, but to take action to move toward them. Dopamine helps in focus, attention, memory and flow of information from others  area of the brain. Tyrosine-hydroxylase is a precursor for three important neurotransmitters: norepinephrine, epinephrine and serotonin.  The treatment  for dopa-responsive dystonia is L-dopa."


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