title: An unusual case of hyperekplexia.
abstract: Hyperekplexia is a rare paroxysmal disorder characterized by exaggerated startle response, hypertonia during infancy and a transient increase in tone following startle attacks. We report an unusual case of hyperekplexia in a young man. In addition to common symptoms of the condition, we found generalized spasticity persisting beyond infancy, and facial and skeletal dysmorphism. Because of an unsteady gait with frequent falls and raised serum creatine kinase levels, a congenital myopathy had been suspected in the past and an abnormal muscle biopsy had been documented. We diagnosed hyperekplexia at the age of 21 years on clinical grounds and following the response to pharmacological treatment. A mutation in the alpha1 subunit of the glycine receptor confirmed the diagnosis. A repeated needle muscle biopsy demonstrated mild myopathic changes, which we considered to be secondary to increased muscle tone. This case highlights the diagnostic difficulties of hyperekplexia, particularly in sporadic cases with unusual presentation.
authors.affiliation: Neuromuscular Unit, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
authors.forename: H
authors.initials: H
authors.lastname: Jungbluth
authors.forename: M I
authors.initials: MI
authors.lastname: Rees
authors.forename: A Y
authors.initials: AY
authors.lastname: Manzur
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: C A
authors.initials: CA
authors.lastname: Sewry
authors.forename: P
authors.initials: P
authors.lastname: Gobbi
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
mesh_terms: D000328:Adult; D001706:Biopsy; D003402:Creatine Kinase / Q000097:blood; D006801:Humans; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D009128:Muscle Spasticity / Q000175:diagnosis* / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D018009:Receptors, Glycine / Q000235:genetics; D012021:Reflex, Abnormal / Q000235:genetics; D013216:Reflex, Startle / Q000502:physiology*
chemical_list: D018009:Receptors, Glycine; D003402:Creatine Kinase