Alternating Hemiplegia of Childhood or AHC is one in a million, rare, severe, genetic neurological condition caused by an ion imbalance in the brain.
AHC is most frequently caused by a mutation in the ATP1A3 gene which codes for a protein responsible for maintaining the critical electrochemical gradient in neurons in the brain known as the “sodium potassium pump.” There are only 1,000 diagnosed cases in the world.
Despite its name, AHC does not only occur in childhood and is instead a disease that patients battle throughout their lives and is associated with devastating outcomes like death, brain atrophy, and sudden and permanent degeneration.
AHC is like having 7 neurological conditions in 1:
Paralysis like stroke
Patients experience debilitating periods of paralysis, which can last for days or weeks.
Seizures and spells of reduced consciousness like epilepsy
These episodes carry a high risk of rapid, severe, and permanent deterioration. Clinical epilepsy occurs in more than 50% of AHC cases.
Low muscle tone like cerebral palsy
Low tone contributes to other serious complications, including the inability to breathe and swallow properly.
Movement problems like Parkinson’s
Patients often experience painful dystonia or involuntary muscle contractions or tremors.
Neurodegeneration like Alzheimer’s
Brain atrophy can cause a decline in motor function, learning capacity, memory, and the ability to breathe, eat and swallow as patients reach adulthood.
Behavioral issues like ADHD
Patients may also have behavioral issues driven in part by pain, frustration, fear and cognitive dysfunction.
Learning challenges like autism
Patients can have cognitive challenges and difficulty with speech, learning, and psychological issues.