TY - JOUR
T1 - Hyperekplexia and stiff-baby syndrome
T2 - An identical neurological disorder?
AU - Cioni, G.
AU - Biagioni, E.
AU - Bottai, P.
AU - Castellacci, A. M.
AU - Paolicelli, P. B.
PY - 1993/3
Y1 - 1993/3
N2 - Hyperekplexia (startle disease) is an unusual, familial, neurological disorder characterized by abnormally enhanced startle response, followed in most cases by momentary generalized muscular stiffness. These attacks may cause the patients to fall rigidly, while remaining fully conscious. Startle symptomatology has generally an onset in infancy and is often accompanied, during the first years of life, by rigidity, sleep myoclonus, motor delay, regurgitation and apneic spells, which may cause sudden death. Stiff-baby syndrome is a familial disorder characterized by marked rigidity, with neonatal onset and gradual reduction during infancy, regurgitations, motor delay and attacks of stiffness. We report 4 new cases of hyperekplexia from two different families and another infant with stiff-baby syndrome discussing clinical, electrophysiological and genetic aspects of both neurological disorders in relation to other reported cases. We suggest a continuum between these familial syndromes, which are often misinterpreted as epilepsy or other disorders.
AB - Hyperekplexia (startle disease) is an unusual, familial, neurological disorder characterized by abnormally enhanced startle response, followed in most cases by momentary generalized muscular stiffness. These attacks may cause the patients to fall rigidly, while remaining fully conscious. Startle symptomatology has generally an onset in infancy and is often accompanied, during the first years of life, by rigidity, sleep myoclonus, motor delay, regurgitation and apneic spells, which may cause sudden death. Stiff-baby syndrome is a familial disorder characterized by marked rigidity, with neonatal onset and gradual reduction during infancy, regurgitations, motor delay and attacks of stiffness. We report 4 new cases of hyperekplexia from two different families and another infant with stiff-baby syndrome discussing clinical, electrophysiological and genetic aspects of both neurological disorders in relation to other reported cases. We suggest a continuum between these familial syndromes, which are often misinterpreted as epilepsy or other disorders.
KW - Hyperekplexia
KW - myoclonus
KW - neonatal hypertonia
KW - startle disease
KW - stiff-baby
UR - http://www.scopus.com/inward/record.url?scp=0027564408&partnerID=8YFLogxK
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U2 - 10.1007/BF02335749
DO - 10.1007/BF02335749
M3 - Article
C2 - 8509269
AN - SCOPUS:0027564408
VL - 14
SP - 145
EP - 152
JO - Italian Journal of Neurological Sciences
JF - Italian Journal of Neurological Sciences
SN - 0392-0461
IS - 2
ER -