4 free views remaining today

hyperekplexia 2

ICD-10 Codes

Related ICD-10:

Description

Hyperekplexia: A Rare Neurological Disorder

Hyperekplexia, also known as exaggerated startle syndrome, is a rare hereditary condition that affects the nervous system. It is characterized by an abnormal and exaggerated motor response or jump in response to unexpected sensory stimuli, such as noise, motion, or touch.

Symptoms of Hyperekplexia

The symptoms of hyperekplexia can vary from person to person but often include:

  • Exaggerated startle reflex: a sudden and intense muscle contraction in response to an unexpected stimulus
  • Hypertonia: increased muscle tone that can cause stiffness and rigidity
  • Muscle twitches or movements while asleep (hypnagogic myoclonus)
  • Increased risk of falling or injuring oneself due to continued symptoms

Age of Onset

Hyperekplexia can manifest at any age, but it is most often diagnosed in infants. In some cases, the condition may be present from birth, and newborns are at risk for sudden infant death due to laryngospasm.

Diagnosis

Diagnosis of hyperekplexia can be made using genetic tests, EEG, EMG, and other medical evaluations. Misdiagnosis is possible, and in some cases, doctors may confuse the condition with a form of epilepsy.

References:

  • [2] Exaggerated startle syndrome (hyperekplexia) is characterized by an abnormal exaggerated motor response or jump in response to an unexpected sensory stimulus (auditory, somatesthetic, or visual). From: Office Practice

Additional Characteristics

  • Hyperekplexia
  • Muscle twitches or movements while asleep (hypnagogic myoclonus)
  • Exaggerated startle syndrome
  • Rare hereditary condition affecting the nervous system
  • Abnormal and exaggerated motor response or jump in response to unexpected sensory stimuli
  • Exaggerated startle reflex: sudden and intense muscle contraction in response to an unexpected stimulus
  • Hypertonia: increased muscle tone that can cause stiffness and rigidity
  • Increased risk of falling or injuring oneself due to continued symptoms
  • Can manifest at any age, most often diagnosed in infants
  • Present from birth, newborns at risk for sudden infant death due to laryngospasm

Signs and Symptoms

Signs and Symptoms of Hyperekplexia

Hyperekplexia, also known as startle disease, is a rare hereditary condition that affects how a person reacts to unexpected stimuli, such as loud noises or sudden movements. The symptoms of hyperekplexia can vary in severity and may include:

  • Exaggerated Startle Reflex: Individuals with hyperekplexia have an excessive reaction to sudden, unexpected stimuli, which can manifest as eye blinking, body spasms, or other physical responses.
  • Muscle Stiffness: Muscle stiffness is a common symptom of hyperekplexia, particularly in infants and young children. This stiffness can be generalized, affecting the entire body, or localized to specific muscle groups.
  • Hypertonia: Hypertonia refers to increased muscle tone, which can lead to stiffness and rigidity in affected individuals.
  • Spasms: Spasms are sudden, involuntary contractions of muscles that can occur in response to stimuli.
  • Generalized Stiffness at Birth: In some cases, infants with hyperekplexia may exhibit generalized stiffness at birth, which can

Additional Symptoms

  • Hypertonia
  • Exaggerated Startle Reflex
  • Muscle Stiffness
  • Spasms
  • Generalized Stiffness at Birth

Diagnostic Tests

Diagnostic Tests for Hyperekplexia

Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle response to sudden or unexpected stimuli. Diagnosing hyperekplexia can be challenging, but several diagnostic tests can help confirm the condition.

  • Genetic Testing: Genetic testing is a crucial step in diagnosing hyperekplexia. It involves analyzing genes associated with the condition, such as the GLRA1 gene [2]. This test can identify mutations that cause hyperekplexia.
  • Electrophysiology: Electrophysiological tests, including electroencephalography (EEG) and electromyography (EMG), can help assess the electrical activity of the brain and muscles. These tests may show abnormal patterns in patients with hyperekplexia [8].
  • Clinical Evaluation: A thorough clinical evaluation is essential to diagnose hyperekplexia. This involves assessing the patient's medical history, performing a physical examination, and observing their response to stimuli.
  • Other Tests: Other diagnostic tests, such as blood tests, urinalysis, and brain imaging studies (e.g., MRI or CT scans), may be performed to rule out other conditions that could cause similar symptoms.

It

Additional Diagnostic Tests

  • Other Tests
  • Clinical Evaluation
  • Genetic Testing
  • Electrophysiology

Treatment

Treatment Options for Hyperekplexia

Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle reaction to sudden loud sounds, movement, or touch. While there is no cure for the condition, various treatment options are available to manage its symptoms.

  • Medications: The primary treatment for hyperekplexia involves the use of anti-anxiety and antispastic medications, such as clonazepam, diazepam, carbamazepine, phenobarbital, and others [3][4]. These medications can help reduce the severity of startle reactions and improve overall quality of life.
  • Clonazepam: Clonazepam is considered the drug of choice for treating hyperekplexia due to its high efficacy in reducing startle reactions [5][6]. It works by enhancing the activity of the neurotransmitter GABA, which helps calm down the nervous system.
  • Other Treatment Options: In some cases, other treatment options such as physical therapy or occupational therapy may be recommended to help manage symptoms and improve daily functioning.

It's essential to note that each individual with hyperekplexia may respond differently to these treatment options. A healthcare professional should be consulted to determine the best course of treatment for a specific case.

References: [1] - [10] are citations from the provided context, used to support the information presented above.

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Differential Diagnoses for Hyperekplexia

Hyperekplexia, also known as startle disease, is a rare genetic disorder characterized by an exaggerated startle response to sudden loud sounds, movement, or touch. When diagnosing hyperekplexia, it's essential to consider other conditions that may present with similar symptoms. Here are some differential diagnoses for hyperekplexia:

  • Symptomatic Hyperekplexia and Spasticity: This condition is characterized by increased muscle tone (hypertonia) and an exaggerated startle reaction, similar to hyperekplexia.
  • Epilepsy in Perinatal Brain Damage and Metabolic Brain Diseases: In some cases, epilepsy can be a differential diagnosis for hyperekplexia, particularly when it involves per

Additional Differential Diagnoses

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1670
owl#annotatedSource
t340985
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060697
core#notation
DOID:0060697
oboInOwl#hasDbXref
ORDO:3197
IAO_0000115
A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.
oboInOwl#hasExactSynonym
HKPX2
rdf-schema#label
hyperekplexia 2
rdf-schema#subClassOf
t341432
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim
IDO_0000664
http://purl.obolibrary.org/obo/GENO_0000148
relatedICD
http://example.org/icd10/G25.8
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.