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)

Suprasegmental effects following selective posterior rhizotomy have been frequently reported. However, few studies have used validated functional outcome measures to report the surgical results beyond 3 years. The authors analyzed data obtained from the McGill Rhizotomy Database to determine the long-term impact of lumbosacral dorsal rhizotomy on fine motor skills. The study population comprised children with debilitating spasticity who underwent SPR and were evaluated by a multidisciplinary team preoperatively, at 6 months and 1 year postoperatively. Quantitative standardized assessments of upper extremity function were obtained using the fine motor skills section of the Peabody Developmental Motor Scales (PDMS) test. Of 70 patients who met the entry criteria for the study, 45 and 25 completed the 3- and 5-year assessments, respectively. Statistical analysis demonstrated significant improvements in grasping, hand use, eye-hand coordination, and manual dexterity at 1 year after SPR. More importantly, all improvements were maintained at 3 and 5 years following SPR. This study supports that significant improvements in upper extremity fine motor function using the PDMS evaluative measure are present after SPR and that these suprasegmental benefits are durable.
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PMID:Impact of selective posterior rhizotomy on fine motor skills. Long-term results using a validated evaluative measure. 1191 47

Sepiapterin reductase (SR) catalyses the last step in the tetrahydrobiopterin biosynthesis pathway; it converts 6-pyruvoyl-tetrahydropterin (6-PTP) to BH(4) in an NADPH-dependent reaction. SR deficiency is a very rare autosomal recessive disorder with normal phenylalanine (Phe) concentration in blood and diagnostic abnormalities are detected in CSF. We present a 16-month-old girl with SR deficiency. From the newborn period she presented with an adaptation regulatory disorder. At the age of 3 months, abnormal eye movements with dystonic signs and at 4.5 months psychomotor retardation were noticed. Since that time axial hypotonia with limb spasticity (or rather delayed reflex development), gastro-oesophageal reflux and fatigue at the end of the day has been observed. Brain MRI was normal; EEG was without epileptiform discharges. Analysis of biogenic amine metabolites in CSF at the age of 16 months showed very low HVA and 5-HIAA concentrations. Analysis of CSF pterins revealed strongly elevated dihydrobiopterin (BH(2)), slightly elevated neopterin and elevated sepiapterin levels. Plasma and CSF amino acids concentrations were normal. A phenylalanine loading test showed increased Phe after 1 h, 2 h and 4 h and very high Phe/Tyr ratios. SR deficiency was confirmed in fibroblasts and a novel homozygous g.1330C>G (p.N127K) SPR mutation was identified. On L-dopa and then additionally 5-hydroxytryptophan, the girl showed slow but remarkable progress in motor and intellectual ability. Now, at the age of 3 years, she is able to sit; expressive speech is delayed (to 1 1/2 years), passive speech is well developed. Her visual-motor skills, eye-hand coordination and social development correspond to the age of 2 1/2 years.
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PMID:Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. 1913 Feb 91