Alternating Hemiplegia of Childhood

What is Alternating Hemiplegia of Childhood?

This rare disease is a neurological, genetic condition that generally appears when an infant reaches 18 months of age.

It was first identified in 1971. The syndrome is rare, occurring in less than 1 in 1 million live births.

The main symptom of the syndrome includes periodic paralysis.

What gene changes cause Alternating Hemiplegia of Childhood?

⅔ of cases of the syndrome are the result of mutations in the ATP1A3 gene. The remaining cases are caused by mutations in the following genes- CANA1A, SLC1A3, ATP1A2.

The condition may be the result of a de novo mutation or inherited in an autosomal dominant pattern depending on the specific gene responsible for the syndrome in an individual.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Alternating Hemiplegia of Childhood?

Episodes of temporary paralysis, either in one side of the body, or on both at the same side, or on alternating sides is the major symptom of this syndrome, and this paralysis may last anywhere from minutes to days. Dance-like movements from the limbs and facial muscles are also common.

Some families report that specific environmental factors may trigger the episodes of paralysis including extreme temperatures, crows, sleep interruptions, exercise, specific odors, foods, medicines and noises. However more research into these factors is required.

Seizures, abnormal eye movements and muscle stiffness are also common features of the condition.

How does someone get tested for Alternating Hemiplegia of Childhood?

The initial testing for Alternating Hemiplegia of Childhood syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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"Our road to a rare disease diagnosis was a 5-year journey that I can only describe as trying to take a road trip with no map. We didn’t know our starting point. We didn’t know our destination. Now we have hope."


Paula and Bobby
Parents of Lillie

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