What Is Dravet Syndrome? The Rare and Severe Epilepsy Disorder

Everyday Health: What Is Dravet Syndrome?

Epilepsy is a neurological disorder that affects people of all ages. There are many different types of epilepsy, with each type presenting its own set of symptoms. One of the most severe forms of epilepsy is Dravet syndrome. This rare disorder can cause seizures that are difficult to control and can result in serious health complications. In this blog post, we will discuss all you need to know about Dravet syndrome: what it is, how it is diagnosed, and the treatment options available.

Dravet syndrome is a rare epilepsy disorder that appears in the first few years of life. It's usually caused by an inherited mutation on one or both copies of the SCN gene, which provides instructions for making sodium channel protein. The symptoms often start with prolonged fevers during infancy and progress to include severe myoclonic epilepsy (SME) seizures. These are characterized by sudden, brief contractions of the muscles that can cause a person to fall down or jerk uncontrollably. Children with this neurological disorder typically develop normally within at least the first few years of life. But as their seizures increase, they may begin missing developmental milestones and have difficulties with eating, appetite, balance, and crouched gait (walking). Other symptoms may include loss of motor skills, intellectual disability, impaired speech, and issues with movement, according to the Genetic and Rare Diseases Information Center.

Dravet syndrome is difficult to diagnose because its symptoms overlap with those of other epilepsy disorders. The disorder may be suspected in infants and children who have prolonged fevers, developmental delays, and/or severe epilepsy seizures that are resistant to treatment. A genetic test can confirm the diagnosis.

There is no cure for Dravet syndrome, but medications and treatments can help control seizures. Some common treatments include antiepileptic drugs (AEDs), epilepsy surgery, ketogenic diet, and vagus nerve stimulation (VNS). It's important to work closely with a healthcare team to find the best treatment plan for your child.

If you suspect that your child has Dravet syndrome, please consult with a healthcare provider. Early diagnosis and treatment are essential for managing this severe epilepsy disorder. Thanks for reading!