ALTERNATING HEMIPLEGIA OF CHILDHOOD

A NEURODEGENERATIVE DISORDER — LIKE HAVING 7 DISEASES AT ONE TIME.
(Paralysis, Seizures, Alzheimer’s, Cerebral Palsy, Parkinson’s, ADHD, & Autism)

WHAT IS ALTERNATING HEMIPLEGIA OF CHILDHOOD ?

Alternating Hemiplegia of Childhood (AHC) is a complex neurodevelopmental syndrome caused by a pathogenic variant in the ATP1A3 gene. This is confirmed through molecular genetic testing. The ATP1A3 gene plays a vital role in regulating the electrical activity of cells in how the brain controls movement, which regulates motor activity and behavior.

AHC manifests in infancy or early childhood with symptoms of alternating hemiparalysis or dystonia, seizure-like episodes, and nystagmus. AHC episodes can last for minutes, hours, days, or even weeks. Over time, more than 50% develop epilepsy in addition to their movement disorder.

COMPLICATIONS AND DEVELOPMENT

Currently, there is no cure for AHC. There are only medication cocktails and treatments that attempt to help control these symptoms before leaving permanent damage. Many affected children display to some degree of developmental and cognitive delay, abnormal eye movements (nystagmus), and uncontrolled limb movements which continue to worsen over time. Treatment is also limited to therapies such as physical, occupational, and speech to reduce the severity and duration of these symptoms as children grow older. However in some cases, these therapies can also trigger an AHCepisode.

RESEARCH and AHC

The Alternating Hemiplegia of Childhood Foundation, CureAHC, and HopeforAnnabel have partnered with Dr. David Liu’s laboratory at the Broad Institute and Harvard University to investigate gene editing as potential therapy for AHC. The recent work of Dr. Liu and his collaborators on the use of gene base editing in mice to treat progeria, a rare syndrome in children characterized by physical signs of premature old age, has given us hope of the promise base editing holds for us and other AHC children and families.

Help join the race with Sydney by donating here for research and clinical trials through AAV-Gene therapy. We are grateful for your support and look forward to the end of AHC.