Results 1 to 10 of about 2,568 (202)

The implications of hyperekplexia on children’s quality of life: a report on two cases [PDF]

Revista Paulista de Pediatria
Objective: To report two pediatric cases of hyperekplexia in a small city of São Paulo state, Brazil. Case description: Two female patients, one aged three years and six months and one aged five months, receiving care from an APAE (Association of ...
Beatriz Salimon Carlos dos Santos, João Pedro Garcia de Mattos, Laura Souza Juliano, Rodrigo Rigoleto de Souza, César Antônio Franco Marinho   +4 more
doaj   +2 more sources

Hyperekplexia Revisited

Pediatric Neurology Briefs, 1992
The August 1992 issue of Ped Neur Briefs included 3 articles on hyperekplexia.
J Gordon Millichap
doaj   +4 more sources

Neonatal Hyperekplexia

Pediatric Neurology Briefs, 1997
A newborn infant with neonatal sporadic hyperekplexia is reported from the Universita di Napoli Federico II, Italy.
J Gordon Millichap
doaj   +4 more sources

Clinical features of progressive encephalomyelitis with rigidity and myoclonus: Case Report [PDF]

Frontiers in Immunology
Progressive encephalomyelitis with rigidity and myoclonus (PERM) is a rare neurological disorder characterized by rigidity, painful spasms, hyperekplexia, brainstem involvement, and autonomic dysfunction.
Lixia Qin, Lixia Qin, Qihua Chen, Qihua Chen   +3 more
doaj   +2 more sources

Hyperekplexia with congenital heart disease: anesthetic concerns and management [PDF]

Anesthesia and Pain Medicine, 2022
Manbir Kaur, Raksha Vyas, Tanvi Meshram, Pradeep Bhatia   +3 more
doaj   +2 more sources

Rare Coexistence of SLC6A9 and TOR1A Gene Mutations in a Neonate Presenting with Hereditary Hyperekplexia and Arthrogryposis Multiplex Congenita: A Case Report with Review of Literature

Indian Pediatrics Case Reports, 2023
Background: Neonatal hyperekplexia is a rare nonepileptiform disorder characterized by an exaggerated startle reflex associated with generalized hypertonia.
Bhavya Patel, Shwetal Bhatt, Vaishali Chanpura   +2 more
doaj   +1 more source

Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes [PDF]

Journal of Movement Disorders, 2017
Familial hyperekplexia, also called startle disease, is a rare neurological disorder characterized by excessive startle responses to noise or touch. It can be associated with serious injury from frequent falls, apnea spells, and aspiration pneumonia ...
Yoonju Lee, Nan Young Kim, Sangkyoon Hong, Su Jin Chung, Seong Ho Jeong, Phil Hyu Lee, Young H. Sohn   +6 more
doaj   +1 more source

Hyperekplexia in neonates [PDF]

Postgraduate Medical Journal, 2001
Abstract Hyperekplexia (startle disease) is a rare non-epileptic disorder characterised by an exaggerated persistent startle reaction to unexpected auditory, somatosensory and visual stimuli, generalised muscular rigidity, and nocturnal myoclonus.
V, Praveen, S K, Patole, J S, Whitehall
openaire   +2 more sources

Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Indian Journal of Ophthalmology, 2020
A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus.
Agnes Selina, Deepa John, Lakshmi Loganathan, Vrisha Madhuri   +3 more
doaj   +1 more source

Anti-glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus initially presenting with one-sided stiff face: A case report

Frontiers in Neurology, 2022
BackgroundProgressive encephalomyelitis with rigidity and myoclonus (PERM) is a subtype of stiff-person syndrome, a rare cerebrospinal disease that causes brainstem symptoms, myoclonus, muscle rigidity, and hyperekplexia.Case presentationA 71-year-old ...
Ken-Ichi Irie, Takahisa Tateishi, Taiga Moritaka, Naonori Sakurada, Shinsuke Kikuchi, Takayuki Taniwaki   +5 more
doaj   +1 more source