Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least one of the initial cases and has been seen in a number of subsequently-reported cases. The associated congenital hypotonia with joint hyperlaxity tends to progress to contractures with spasticity and unsteady gait in later life. The presence of subtle facial abnormalities and the characteristic behavior in midchildhood facilitate diagnosis at this age, particularly when there are other affected male relatives in the maternal family. Recently, Briault et al. [1997] mapped a gene for FG syndrome to the Xq12-q21.31 region. We describe three additional families (six additional patients) with FG syndrome on whom we have conducted linkage analysis. Our findings support the localization of a gene for the FG syndrome in Xq12-q21. In addition, we have noted skewed X-inactivation in carrier females, as well as new associated findings in affected males of sagittal craniosynostosis and split hand malformation.
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PMID:FG syndrome: report of three new families with linkage to Xq12-q22.1. 980 32

Sporadic cases of recovery from persistent vegetative state (PVS) after administration of intrathecal baclofen (ITB) have been reported without giving any possible explanation for its paradoxical effect. We summarize our recent findings on 5 patients with PVS treated with ITB and make some speculations on the mechanisms responsible for the observed clinical improvement. The patients developed spasticity and were judged eligible for ITB therapy. Two weeks after pump implantation, patients began to show a clinical improvement that, at the end of the 6 months' follow-up, was stable in all but 1 patient, ranging from a mere increased alertness to a full recovery of consciousness, as revealed by changes of the Coma Recovery Scale-Revised (CRS-R) score. Our findings suggest that ITB might favor a variable degree of clinical improvement. A proposal for a pharmacodynamic explanation of this effect has not been formally put forward. We hypothesize 2 possible mechanisms: first, a modulation confined to spinal cord segmental activities and to neuronal centripetal outputs reaching the cortex; and second, a modulation of sleep-wake cycles that, although present, may be dysregulated and interfere with alertness and awareness. Although our research is confined to a few subjects, it provides follow-up information by means of the CRS-R that is a validated standardized neurobehavioral instrument expressly designed for use in patients with PVS. Our observations indicate that further systematic investigation of the mechanisms and the putative clinical applications of ITB should be undertaken.
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PMID:Intrathecal baclofen in patients with persistent vegetative state: 2 hypotheses. 1957 40

The authors report on an infant with a bifrontal encephalocele that was associated with multisuture craniosynostosis, spasticity, and a progressively severe epilepsy. They describe the initial presentation, genetic screening results, staged multidisciplinary operative plans, clinical course, complications, and long-term surgical and developmental follow-up. To their knowledge, the comprehensive surgical management of this type of complicated congenital cranial anomaly has not been previously described. Surgical management was staged and multidisciplinary and required careful attention to all 3 components of the condition: 1) hydrocephalus, 2) frontal meningoencephalocele, and 3) epilepsy.
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PMID:Multidisciplinary staged surgical management of bifrontal meningoencephalocele with long-term follow-up. 2335 Jun 78