Recurrent apnea, feeding difficulties, choking, and sudden death are reported in some cases. [pediatricneurologybriefs.com]

He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation of middle thumb and index finger with deformity, and scoliosis. [pediatricneurosciences.com]

He had minor dysmorphic features in the form of high arched palate, prominent ears, flat bridge of nose, small eyes, malformation of both hands in the form of undue separation of middle thumb and index finger with deformity, and scoliosis. [pediatricneurosciences.com]

Differential diagnosis The differential diagnoses of hyperekplexia in the neonatal period include the congenital stiff-man syndrome, startle epilepsy, myoclonic seizures, neonatal tetany, and phenothiazine toxicity. 40 41 Hyperekplexia may also be misdiagnosed [pmj.bmj.com]

grimacing with blinking, followed by involuntary movements of head flexion, hunching of shoulders, adduction of the arms, and flexion of the trunk and the knees, causing falling without a protective reaction. 9 10 It appears in infancy at the same time [pmj.bmj.com]

In addition to excessive startling, behavioral and/or psychiatric symptoms are observed. [ncbi.nlm.nih.gov]

Examples: Startle epilepsy Reticular and propriospinal myoclonus Tic disorders Subacute sclerosing panencephalitis Paraneoplastic syndromes Another startle-induced disorder is stiff person syndrome (SPS), characterized by progressive axial stiffness and [ncbi.nlm.nih.gov]

Autosomal dominant isolated somatotropin deficiency Triglyceride storage disease with ichthyosis Tourette Syndrome A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. [amp.pharm.mssm.edu]

Following a startle reflex other responses may be seen, including echolalia and echopraxia. [ncbi.nlm.nih.gov]

It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. [amp.pharm.mssm.edu]

A myoclonic response to a tap on the nose, hyperreflexia with sustained clonus, hypertonia, jitteriness, and sleep myoclonus are the characteristic manifestations of the major form. [pediatricneurologybriefs.com]

They show myotonia clinically and electrophysiologically. [12] Gilles de la Tourette syndrome A syndrome which usually starts before 16 years of age with obsessions–compulsions, involuntary utterances, coprolalia, aggression, and repetitive motor activity [pediatricneurosciences.com]