Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The aim of this study was to evaluate whether children with congenital hemiplegia show abnormal hand function on the non-hemiplegic side and whether this, if present, can be related to the type and extent of brain lesions on MRI. Twenty-two children with congenital hemiplegia of age ranging between 4.8 and 12.3 years, were assessed with a clinical and MRI assessment. Clinical assessment included a structured neurological examination, assessment of hand grips and the Movement Assessment Battery for Children which also includes one item assessing speed and accuracy in each hand. The results showed that 64% of the children studied showed some degree of functional impairment of the non-hemiplegic hand. Manual dexterity 1 from the Movement ABC was, in our experience, a more sensitive tool to detect minor functional abnormalities than the evaluation of hand grips. The severity of the impairment on the non-hemiplegic side was not significantly related to the severity of impairment in the hemiplegic hand (p > 0.05). In contrast, a significant association was found with the site of lesions as hand function in the non-hemiplegic hand was always normal in children with unilateral lesion and abnormal in the ones with bilateral parenchymal lesions (p < 0.05). Children with predominantly unilateral lesions but with bilateral ventricular dilatation or periventricular changes showed more variable results.
 ...
PMID:Congenital hemiplegia in children at school age: assessment of hand function in the non-hemiplegic hand and correlation with MRI. 1022 54

Recent consensus on the definition, phenomenology and classification of dystonia centres around phenomenology and guides our diagnostic approach for the heterogeneous group of dystonias. Current terminology classifies conditions where dystonia is the sole motor feature (apart from tremor) as 'isolated dystonia', while 'combined dystonia' refers to dystonias with other accompanying movement disorders. This review highlights recent advances in the genetics of some isolated and combined dystonic syndromes. Some genes, such as ANO3, GNAL and CIZ1, have been discovered for isolated dystonia, but they are probably not a common cause of classic cervical dystonia. Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). Similarly, ATP1A3 mutations cause a wide phenotypic spectrum ranging from rapid-onset dystonia-parkinsonism to alternating hemiplegia of childhood. Other entities entailing dystonia-parkinsonism include dopamine transporter deficiency syndrome (SLC63 mutations); dopa-responsive dystonias; young-onset parkinsonism (PARKIN, PINK1 and DJ-1 mutations); PRKRA mutations; and X-linked TAF1 mutations, which rarely can also manifest in women. Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations. Thus, new genes are being recognized for isolated dystonia, and the phenotype of known genes is broadening and now involves different combined dystonia syndromes.
...
PMID:Isolated and combined dystonia syndromes - an update on new genes and their phenotypes. 2564 88