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How is Hyperekplexia diagnosed?

See how Hyperekplexia is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Hyperekplexia

Hyperekplexia diagnosis

Hyperekplexia, also known as startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected stimuli. This condition is typically present from birth and can cause significant distress and impairment in affected individuals. Diagnosing hyperekplexia involves a comprehensive evaluation of the patient's medical history, physical examination, and specialized tests.



Medical History


The first step in diagnosing hyperekplexia is obtaining a detailed medical history from the patient or their caregivers. The healthcare provider will inquire about the symptoms experienced, their frequency, and any triggering factors. It is important to identify the presence of exaggerated startle responses, as well as any associated symptoms such as muscle stiffness, falls, or seizures. Additionally, the healthcare provider will ask about the family history of similar symptoms, as hyperekplexia can have a genetic component.



Physical Examination


A thorough physical examination is crucial in the diagnostic process. The healthcare provider will assess the patient's muscle tone, reflexes, and overall neurological function. In individuals with hyperekplexia, the startle response is typically triggered by sudden movements or noises. The exaggerated startle reflex can be observed during the examination, and the provider may also elicit the response by tapping on the patient's nose or clapping their hands. The examination aims to differentiate hyperekplexia from other conditions that may present with similar symptoms.



Specialized Tests


To confirm the diagnosis of hyperekplexia and rule out other potential causes, specialized tests may be performed. These tests can include:




  • Electromyography (EMG): EMG measures the electrical activity of muscles and can help identify abnormal muscle responses. In hyperekplexia, EMG may reveal an excessive startle response in the muscles.

  • Genetic Testing: As hyperekplexia can have a genetic basis, genetic testing may be conducted to identify specific mutations or alterations in genes associated with the condition. This can help confirm the diagnosis and provide information about the inheritance pattern.

  • Neuroimaging: In some cases, neuroimaging techniques such as magnetic resonance imaging (MRI) may be used to evaluate the brain and spinal cord. This can help rule out structural abnormalities or other underlying conditions that may be causing the symptoms.



It is important to consult with a healthcare professional experienced in diagnosing and managing hyperekplexia to ensure an accurate diagnosis. The diagnostic process may vary depending on the individual case, and additional tests or evaluations may be necessary.


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Genetic testing to see if you have the gene

Posted Feb 27, 2017 by Kymberlee 1000

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My son, born April 2016, was diagnosed with Hyperekplexia five days after birth. He has it rather severely, with reoccurring apnoeas. Please feel free to contact me, especially if you are a new parent or have the GLRB mutation. 
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