Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Angelman syndrome (AS) is a distinct neurogenetic disorder and the phenotype is well known in childhood and adolescence. However, with advancing age the clinical and behavioral phenotype changes. In adulthood, the phenotype can be rather aspecific. We report on AS in 3 severely to profoundly mentally retarded patients, who developed severe neurologic complications of severe tremor, spasticity and coordination problems, resulting into severe loss of function. They presented atypical craniofacial features, short stature, epileptic seizures, microcephaly, brachytelephalangy and absent speech. Two patients presented at an older age a change in day-night rhythm. Based on this experience, we conclude that all severely to profoundly mentally retarded patients with atypical phenotype, spasticity, absent speech, epileptic seizures and changed day-night rhythm are candidates for further cytogenetic and molecular investigation for AS. Clinical photographs of the patient at a younger age can be helpful. The presence of the typical EEG pattern with frontal triphasic delta waves may direct to the diagnosis of AS.
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PMID:Angelman syndrome in three adult patients with atypical presentation and severe neurological complications. 1114 Apr 14

The characteristic slowness of movement initiation and execution in adult individuals with mental retardation may be driven by the slower frequency profile of the dynamics of the system. To investigate this hypothesis, we examined the resting and postural finger tremor frequency profile (single and dual limb) of adults as a function of level of mental retardation (moderate, severe, profound). There was a progressive increase in the contribution of slow frequency components to the enhanced amplitude of tremor as a function of mental retardation, particularly in the group with profound mental retardation. Findings support the hypothesis of mental retardation inducing a slower frequency to the system dynamics that may fundamentally drive the characteristic slowness of movement behavior.
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PMID:Tremor frequency profile as a function of level of mental retardation. 1755 96