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Published on: November 21, 2013
Sporadic hyperekplexia presenting with an ataxic gait
Idoia Rouco1, Iker Bilbao1, Jose Losada1
1Neurology Service, Cruces University Hospital, Department of Neurosciences, University of the Basque Country, Plaza de Cruces, s/n., Baracaldo, Vizcaya CP 48993, Spain.
Summary
This case study highlights sporadic hyperekplexia, a rare neurological disorder. Early diagnosis and clonazepam treatment significantly improved gait and quality of life for a misdiagnosed patient.
Area of Science:
- Neurology
- Genetics
Background:
- Hyperekplexia is a rare genetic or sporadic disorder.
- It is characterized by an exaggerated startle response.
- Gait abnormalities can mimic ataxia, leading to misdiagnosis.
Observation:
- A 62-year-old man presented with a 15-year history of unsteady, broad-based gait.
- He was misdiagnosed with idiopathic ataxia for nearly a decade.
- Video EEG and EMG revealed an excessive startle response to auditory stimuli.
Findings:
- Extensive work-up excluded symptomatic causes of hyperekplexia.
- Treatment with clonazepam effectively reduced the startle response.
- The patient regained independence and improved gait quality.
Implications:
- This case underscores the importance of recognizing hyperekplexia in gait disorders.
- Timely diagnosis is crucial for effective treatment and improved patient outcomes.
- Awareness of hyperekplexia can prevent prolonged misdiagnosis and improve quality of life.
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