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New Discoveries On Alternating Hemiplegia of Chidhood

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New Discoveries On Alternating Hemiplegia of Chidhood

New discoveries regarding alternating hemiplegia of chidhood have been made. According to a study published recently in Nature Genetics, alternating hemiplegia of childhood is caused by a mutation in the ATP1A3 gene. This mutation was found in most patients with alternating hemiplegia of childhood. The discovery was made after several investigations made by the  researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with Researchers at Duke University Medical Center.

The discovery of the first gene involved in alternating hemiplegia of childhood would not have been possible without access to international database of patients with AHC. Kathryn J. Swoboda, MD, co-first author on the study, associate professor of neurology and pediatrics, and director of the Pediatric Motor Disorders Research Program at the University of Utah, with the AHC Foundation, managed to create an international database of patients with AHC, which includes 200 people.

This discovery helps establish a more rapid diagnosis of the disease. As it is a rare disease, parents spend much time with unnecessary investigations until children are diagnosed. Now, through a simple blood test patients can be diagnoses quickly. In addition, the discovery of this genetic mutation can be the basis for future treatments for children suffering from alternating hemiplegia of childhood.

Child Hemiplegia

Child Hemiplegia

Alternating hemiplegia pf childhood is a rare neurological disease whose etiology has long been unknown. On average one in one million people suffer from this disease. Alternating hemiplegia of childhood patients have episodes of temporary paralysis on one side or both sides of the body. These attacks can be of different duration and not are necessarily associated with paralysis, it may also involve mild muscle weakness. Episodes of paralysis occur in childhood and are accompanied by other neurological manifestations such as tremor, dysphagia, dysarthria, dyspnea.

Alternating hemiplegia of childhood is also associated with epilepsy, which makes it hard to diagnose because children are often diagnosed with epilepsy. Epilepsy is a neurological disease characterized by seizures. An important feature of this disease is that symptoms disappear with sleep. In more severe attacks,  they may reappear after wakening. It is also important to know that patients with alternating hemiplegia of childhood are  mentally deficient. Cognitive impairment is almost always present in these patients and may be mild, moderate or severe. It should be noted that alternating hemiplegia  of childhood may be  associated with permanent damage: motor impairment, cognitive impairment, psychiatric disorders etc..

Alternating hemiplegia of chidhood respond to AEDs, such as carbamazepine, valproic acid. Other drugs  used to control symptoms are  flunarizine or sodium oxybat.