Alternating Hemiplegia of Childhood (AHC) is an ultra-rare neurological disorder affecting approximately one in one million children, most often caused by a genetic mutation of the ATP1A3 gene.
Despite its name, AHC occurs not only in childhood but lasts the patient's entire life. AHC currently has no cure and is associated with devastating outcomes like death, brain atrophy, and sudden and permanent degeneration.
Patients experience debilitating periods of paralysis, which can last for days or weeks.
These episodes carry a high risk of rapid, severe, and permanent deterioration. Clinical epilepsy occurs in more than 50% of AHC cases.
Low tone contributes to other serious complications, including the inability to breathe and swallow properly.
Patients often experience painful dystonia or involuntary muscle contractions or tremors.
Brain atrophy can cause a decline in motor function, learning capacity, memory, and the ability to breathe, eat and swallow as patients reach adulthood.
Patients may also have behavioral issues driven in part by pain, frustration, fear and cognitive dysfunction.
Patients can have cognitive challenges and difficulty with speech, learning, and psychological issues.
The following is a video of Estella in a dystonic episode.
Warning: the following images may be disturbing to some people.
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