Alternating Hemiplegia of Childhood Clinic
Alternating Hemiplegia of Childhood (AHC) is a rare disorder featuring episodic attacks of marked weakness of one side of the body, known as hemiplegia. The weakness can be on one side and then the other side of the body, hence the name alternating hemiplegia. Some patients have milder symptoms, but AHC can also be more severe, sometimes with total body paralysis. This disorder starts in childhood and is associated with other neurologic problems including epilepsy, developmental delay, and intellectual disabilities.
While AHC has been recognized as a distinct clinical entity for many years, the underlying genetics have only been recently discovered. Most, but not all, patients with AHC have a mutation in a gene called ATP1A3. The normal function of this gene in under intense scrutiny but is generally thought to play a key role in controlling the movement of sodium and potassium in and out of a cell.
ATP1A3 is highly expressed in neurons. This may explain the prominent neurologic symptoms seen in patients with AHC. However, we have minimal understanding about why only one side of the body can be affected during a single episode.
Our AHC clinic was established in 2014 under the direction of Kevin C. Ess, M.D., Ph.D. Dr. Ess is the Chief of Pediatric Neurology at Vanderbilt and is an accomplished physician-scientist. He specializes in the treatment of pediatric epilepsy. His research interests focus on neurogenetic disorders, including AHC and tuberous sclerosis complex.
Contact and Appointments
Families interested in an evaluation by Dr. Ess should contact Cindy Butterbaugh at firstname.lastname@example.org or call (615) 936-7966.
Learn more about AHC from the Alternating Hemiplegia Foundation ahckids.org
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