Related Experiment Videos
An unusual case of hyperekplexia
H Jungbluth1, M I Rees, A Y Manzur
1Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Summary
This case report details an unusual presentation of hyperekplexia, a rare neurological disorder, in a young man. Genetic testing confirmed the diagnosis, highlighting diagnostic challenges in atypical cases.
Area of Science:
- Neurology
- Genetics
Background:
- Hyperekplexia is a rare genetic disorder characterized by an exaggerated startle reflex and muscle stiffness.
- Typical symptoms include neonatal-onset hypertonia and transient increases in muscle tone after startling stimuli.
Observation:
- A young man presented with generalized spasticity persisting beyond infancy, facial and skeletal dysmorphism, and an unsteady gait.
- Previous misdiagnosis as congenital myopathy due to elevated creatine kinase and abnormal muscle biopsy.
- Diagnosis of hyperekplexia was made at age 21 based on clinical presentation and pharmacological response.
Findings:
- Genetic analysis identified a mutation in the alpha1 subunit of the glycine receptor, confirming hyperekplexia.
- Repeated muscle biopsy showed mild myopathic changes, likely secondary to chronic muscle hypertonia.
Implications:
- This case underscores the diagnostic complexities of hyperekplexia, especially in sporadic instances with atypical features.
- Highlights the importance of considering hyperekplexia in patients with persistent spasticity and dysmorphism, even with prior misdiagnoses.