Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Hyperekplexia and stiff-baby syndrome: an identical neurological disorder? 850 69

Two brothers, aged 34 and 30 showed signs of gargoylism, macular cherry-red spots, angiokeratoma, vertebral deformities, epilepsy, action myoclonus and ataxia. In 1985, they were diagnosed as juvenile galactosialidosis due to the decrease in activity of beta-galactosidase and neuraminidase when they had slight valvular involvement with mild heart murmur. On admission in 1994, their echocardiograms revealed marked progression of the cardiac involvement, i.e. thickening of the valvular and left ventricular wall with valvular regurgitation. These findings suggested that accumulation of abnormal materials was increased during the past 10 years. The change in the echocardiographic findings was more severe in the younger brother who had milder physical and neurological manifestations, although severity of neurological symptoms correlated with those of other symptoms in some reports. This study indicates that an evaluation in cardiac involvement may be very important in patients with galactosialidosis, even those with very mild neurological manifestations. Thus echocardiogram is very useful for this purpose.
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PMID:[Two siblings of galactosialidosis with marked progression of cardiac involvement during 10 years]. 881 Aug 50