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How do I know if I have Dravet Syndrome?

What signs or symptoms may make you suspect you may have Dravet Syndrome. People who have experience in Dravet Syndrome offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Do I have Dravet Syndrome?

Dravet Syndrome is a rare genetic disorder that affects the brain and causes severe seizures. It typically begins in infancy and continues throughout a person's life. If you suspect that you or someone you know may have Dravet Syndrome, it is important to consult with a medical professional for a proper diagnosis.



Symptoms:


The hallmark symptom of Dravet Syndrome is prolonged and frequent seizures, often triggered by fever or hot temperatures. These seizures are usually prolonged and can be life-threatening. Other symptoms may include:



  • Developmental delays

  • Cognitive impairment

  • Behavioral difficulties

  • Speech and language delays

  • Motor coordination issues

  • Sleep disturbances



Diagnosis:


Diagnosing Dravet Syndrome involves a comprehensive evaluation by a healthcare professional. The process may include:



  • Medical history review

  • Physical examination

  • Neurological examination

  • Genetic testing to identify specific gene mutations associated with Dravet Syndrome

  • Electroencephalogram (EEG) to measure brain activity and detect abnormal patterns



Treatment:


While there is no cure for Dravet Syndrome, treatment focuses on managing symptoms and reducing the frequency and severity of seizures. This may involve:



  • Anti-seizure medications to control seizures

  • Medications to manage specific symptoms like sleep disturbances or behavioral difficulties

  • Physical, occupational, and speech therapy to address developmental delays and improve quality of life

  • Supportive care and lifestyle modifications, such as maintaining a cool environment to minimize seizure triggers



Prognosis:


Dravet Syndrome is a lifelong condition that requires ongoing medical management. The prognosis varies from person to person, but individuals with Dravet Syndrome often face challenges in their daily lives. Early diagnosis and appropriate treatment can help improve outcomes and quality of life.



If you suspect that you or someone you know may have Dravet Syndrome, it is crucial to seek medical attention for a proper evaluation and diagnosis. Only a healthcare professional can accurately diagnose Dravet Syndrome and provide appropriate guidance and support.


Diseasemaps
3 answers
Febrile seizures followed by recurrent, mostly tonic clonic, seizures with increasing frequency during the first three years of life. While there are many causes for childhood seizures, a neurologist can determine whether or not the suite of symptoms are consistent with Dravet and readily confirm a diagnosis with a genetic test. The earlier this is done the better as there are clear guidelines for initial seizure treatments, and many common anti epileptic drugs are counter-indicated for Dravet.

Posted Dec 2, 2017 by Anna 2020
Genetic test for SCN1A mutation

Posted Dec 18, 2017 by Antigoni 2500

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