Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hyperekplexia, also known as hereditary startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected auditory, tactile, or visual stimuli. While "Hyperekplexia" is the currently preferred clinical term, it is frequently documented in medical literature under various historical names such as "stiff baby syndrome" or "startle disease" due to its distinct clinical presentation. What are the primary synonyms for Hyperekplexia? In medical records and academic literature, you may encounter several terms for Hyperekplexia.
Hyperekplexia synonyms
Other names for Hyperekplexia: synonyms, acronyms and related terms used by doctors and patients.
Hyperekplexia, also known as hereditary startle disease, is a rare neurological disorder characterized by an exaggerated startle response to unexpected auditory, tactile, or visual stimuli. While "Hyperekplexia" is the currently preferred clinical term, it is frequently documented in medical literature under various historical names such as "stiff baby syndrome" or "startle disease" due to its distinct clinical presentation.
What are the primary synonyms for Hyperekplexia?
In medical records and academic literature, you may encounter several terms for Hyperekplexia. Because the condition was historically described based on its most striking symptom—the exaggerated startle reflex—many older sources use descriptive titles rather than the modern genetic classification. Today, Hyperekplexia is the standard term used in both research and clinical practice to ensure consistent diagnostic coding.
Why does this condition have multiple names?
The variety of names for Hyperekplexia stems from its evolution in medical understanding. Early clinicians described the condition based on physical symptoms, leading to terms like "stiff baby syndrome," which refers specifically to the hypertonia often observed in neonates. As genetic testing advanced, researchers identified mutations in genes such as GLRA1, GLRB, and SLC6A5, leading to a more precise, uniform classification under the term Hyperekplexia.
How is Hyperekplexia classified in medical databases?
To help you navigate your medical records, here are the common identifiers and names used for Hyperekplexia across major systems:
- Orphanet: ORPHA409 (Preferred: Hyperekplexia)
- OMIM: #149400 (Hereditary Hyperekplexia)
- ICD-10/11: G25.8 (Often categorized under "Other specified extrapyramidal and movement disorders")
- Historical/Alternative Names: Startle disease, Hereditary startle disease, Stiff baby syndrome, Familial startle disease.
At DiseaseMaps.org, we have 56 community members who have joined to share their personal experiences with Hyperekplexia. Connecting with others can provide clarity on how these various terms are used in different healthcare systems globally.
Next steps
- Consult a neurologist or clinical geneticist to confirm your specific diagnosis using the term Hyperekplexia.
- Verify your medical records to ensure consistent terminology for insurance and specialist referrals.
- Join the DiseaseMaps.org community to connect with other families navigating this diagnosis.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Hyperekplexia
- Orphanet: Rare Disease Database (ORPHA409)
- OMIM (Online Mendelian Inheritance in Man): #149400
