Clinical and inheritance profiles of hyperekplexia in jordan

Masri, Amira; Hamamy, Hanan

doi:10.1016/s0035-3787(07)90440-3

Cited by 3 publications

(4 citation statements)

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“…The mode of inheritance was autosomal dominant. HPX has been identified in >100 pedigrees and in >120 sporadic cases (Bakker et al., 2006; Siren et al., 2006; Doria et al., 2007; Forsyth et al., 2007; Masri & Hamamy, 2007; Gregory et al., 2008; Al‐Owain et al., 2011; Zoons et al., 2012). There are three clinical symptoms: generalized stiffness at birth, excessive startle reflexes, and generalized stiffness following startle.…”

Section: Hyperekplexiamentioning

confidence: 99%

The startle syndromes: Physiology and treatment

Dreissen

Tijssen

2012

Epilepsia

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SUMMARYStartle syndromes are paroxysmal and show stimulus sensitivity, placing them in the differential diagnosis of epileptic seizures. Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. HPX is characterized by an exaggerated motor startle reflex combined with stiffness and is caused by mutations in different parts of the inhibitory glycine receptor, leading to brainstem pathology. The preserved consciousness distinguishes it from epileptic seizures. Clonazepam is the first-choice therapy. The stimulusinduced disorders cover a broad range of epileptic and nonepileptic disorders, and distinguishing the two can be difficult. Additional information from electroencephalography (EEG) and video registration can help. Many stimulus-induced disorders now have an identified gene defect. Antiepileptic drugs, including benzodiazepines, are frequently mentioned as the best treatment option. Neuropsychiatric syndromes are on the borderland of neurology and psychiatry, and their etiology is poorly understood. These syndromes include startle-induced tics, culture-specific disorders such as Latah, and functional startle syndromes. The electromyography (EMG) startle reflex in these syndromes is characterized by variable recruitment patterns and the presence of a second ''orienting'' response. Treatment options are limited, but urgently required. In the clinical setting, the patient's history and a (home) video recording together with genetic and electrophysiologic testing help to classify these challenging disorders.

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Section: Hyperekplexiamentioning

confidence: 99%

The startle syndromes: Physiology and treatment

Dreissen

Tijssen

2012

Epilepsia

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“…The diagnosis of hyperekplexia is based on history and clinical examination; however, it is often misdiagnosed as epilepsy because of similar clinical features and physicians' unawareness of this condition [7][8][9]. Clues in the history and examination of our patients towards this diagnosis included excessive startling to external stimuli and a positive glabellar/nose tap ( Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…Consequently, it is important to always consider hyperekplexia as a differential diagnosis in patients with a potential diagnosis of epilepsy or PNED. Further genetic research is needed to explore atypical presentations in our region [9].…”

Section: Discussionmentioning

confidence: 99%

Misdiagnosis of paroxysmal non-epileptic disorders in children

Masri

Shanab

2015

J Pediatr Neurol

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Paroxysmal non-epileptic disorders (PNEDs) are often misdiagnosed as epilepsy. This study describes cases of misdiagnosed PNEDs. In addition, it identifies aspects of the clinical assessment that may assist in reaching a correct diagnosis. A total of 100 patients (58 boys and 42 girls) were included. Misdiagnosed PNEDs included: breath-holding spells (37%); excessive jitteriness and/or atypical hyperekplexia (15%); vasovagal attack (12%); psychogenic seizures (11%); gastroesophageal reflux (10%); hyperekplexia (5%); masturbation (3%); head nodding (2%); tic (2%); paroxysmal torticollis (1%); migraine (1%); vitamin B12 deficiency-induced tremor (1%). Forty-four (44%) patients were misdiagnosed with epilepsy and parents presented for a second opinion, while 56 (56%) patients were referred with a suspicion of epilepsy. Forty-two (42%) patients received antiepileptic treatment before presenting to us. History emerged as the most helpful diagnostic tool. Examination was only useful in hyperekplexia, while mobile phone video camera emerged as a potentially useful but underutilized diagnostic tool and were present in 85% of the patients. PNEDs are often misdiagnosed as epilepsy. Elements that were helpful in making a correct diagnosis included history, examination, and witnessing the attack in clinic or on mobile phones.

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“…Hyperekplexia is a rare congenital nonepileptic disease marked by hyper‐reactivity of the neuromuscular system presenting with excessive startle response to acoustic, visual, or other stimuli (1). These children with hyperekplexia are often misdiagnosed as having epilepsy although it is one of the differential diagnoses for refractory tonic spasms in infancy (2).…”

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confidence: 99%