Alternating Hemiplegia of Childhood

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Alternating Hemiplegia of Childhood is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by repeated episodes of weakness or paralysis that may affect one side of the body or the other (hemiplegia) or both sides of the body at once (quadriplegia). Additional episodic symptoms usually include intermittent abnormal eye movements, episodes of muscle stiffness or posturing (dystonia), and in a substantial percentage of cases, seizures. Delays in attaining developmental milestones (developmental delays), cognitive impairment, and persistent issues with balance and the presence of continuous dance-like movements of limbs or facial muscles (chorea) may occur independently of episodes of paralysis, weakness or stiffness and persist between episodes. The severity of AHC and the specific types of episodes that occur can vary dramatically from one individual to another. First symptoms usually begin before the age of 18 months. AHC is caused by mutations in the ATP1A3 gene in the majority of those affected. AHC is a rare disorder that was first reported in the medical literature in 1971 by doctors Simon Verret and John C. Steele. They described an unusual disorder in eight children who demonstrated intermittent episodes of weakness, affecting first one side of the body, then the other, with onset in early childhood, including one child who manifested symptoms as early as 3 months of age. However, the disorder remained poorly understood for many years, in part, because of its rarity and complex and highly variable symptoms. More research is necessary to improve early diagnosis, understand the full range of symptoms, and develop more effective treatments. The identification of a causative gene for AHC should lead to a better understanding of the disorder and open new avenues for treatment. The spectrum of related disorders with overlapping symptoms continues to expand, and has led to the increasingly common use of the term "ATP1A3-related neurologic disorders". This umbrella includes patients with rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome. However, an increasing number of patients with overlapping symptoms that further expand the phenotypes even beyond these well-described disorders, initially thought to be completely distinct, continues to expand.

Supporting Organizations

Alternating Hemiplegia of Childhood Foundation (AHCF)

2000 Town Center
Suite 1900
Southfield, MI 48075
USA
Tel: (313) 663-7772
Fax: 313-733-8987
Email: ahcfoundation@ahckids.org
Website: http://www.ahckids.org

Contact A Family

209-211 City Road
London, EC1V 1JN
United Kingdom
Tel: 2076088700
Fax: 2076088701
Tel: 8088083555
Email: info@cafamily.org.uk
Website: http://www.cafamily.org.uk/

Epilepsy Foundation

8301 Professional Place
Landover, MD 20785-7223
Tel: (866)330-2718
Fax: (877)687-4878
Tel: (800)332-1000
Email: ContactUs@efa.org
Website: http://www.epilepsyfoundation.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated:  4/5/2016
Copyright  2016 National Organization for Rare Disorders, Inc.