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

Many of the disturbances resulting from dysregulations in the autonomous nervous system of children with cerebral palsy are rarely discussed in the doctor's praxis. Nevertheless, they are causes of trouble and worry for the parents. For this reason we started an inquiry into this matter. Questionnaires were sent to the parents of 452 C.P. patients. 374 were answered with sufficient care. The following factors were evaluated: sleep, bladder and bowel activity, temperature regulation, vomiting, sweating, blood circulation, growth. The C.P. children were compared to their own siblings especially to the next younger ones. The diagnoses were as follows: Spastic tetraplegia 197 patients. Spastic hemiplegia 44 patients, Athetosis 33 patients, Mixed cases of spasticity and athetosis 82 patients, Other 15 patients. The degrees of handicap in terms of motor development were: severe (unability to sit unsupported) 166 cases, moderate (unability to kneel or walk unsupported) 118 cases, mild (ability to kneel and/or walk unsupported) 87 cases. Summarized, the statements of the parents gave the following results: sleep disturbances: 169 cases (46%), constipation: 145 cases (39%), tendency towards temperature dysregulation: 112 cases (30%) , tendency towards increased vomiting: 91 cases (25%), sweating increased or decreased: 110 cases (30%), irregular and frequent voiding of bladder: 92 cases (25%), unstable regulation of blood circulation: 101 cases (27%), cold skin: 264 cases (71%), body-length deficit: 119 cases (32%), low-weight: 177 cases (48%), feet too small for age: 252 cases (68%). Results are related to diagnosis and severeness of handicap. In addition, it is discussed, whether there are relations between several of the investigated factors. The influence of the patients sex is discussed.
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PMID:[Vegetative disorders in children with cerebral palsy. Results of an inquiry of parents]. 97 69

Mutations in adaptor protein complex-4 (AP-4) genes have first been identified in 2009, causing a phenotype termed as AP-4 deficiency syndrome. Since then several patients with overlapping phenotypes, comprised of intellectual disability (ID) and spastic tetraplegia have been reported. To delineate the genotype-phenotype correlation of the AP-4 deficiency syndrome, we add the data from 30 affected individuals from 12 out of 640 Iranian families with ID in whom we detected disease-causing variants in AP-4 complex subunits, using next-generation sequencing. Furthermore, by comparing genotype-phenotype findings of those affected individuals with previously reported patients, we further refine the genotype-phenotype correlation in this syndrome. The most frequent reported clinical findings in the 101 cases consist of ID and/or global developmental delay (97%), speech disorders (92.1%), inability to walk (90.1%), spasticity (77.2%), and microcephaly (75.2%). Spastic tetraplegia has been reported in 72.3% of the investigated patients. The major brain imaging findings are abnormal corpus callosum morphology (63.4%) followed by ventriculomegaly (44.5%). Our result might suggest the AP-4 deficiency syndrome as a major differential diagnostic for unknown hereditary neurodegenerative disorders.
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PMID:Comprehensive genotype-phenotype correlation in AP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients. 3289 17