PubMed Health⌕ Search

Biomedical subjects

G T McCarthy

Publications and source records attributed to G T McCarthy.

9 recordsLinked to original sources

GTP cyclohydrolase deficiency; intrafamilial variation in clinical phenotype, including levodopa responsiveness.

A family with a dominant form of partial GTP cyclohydrolase deficiency is described. Clinical severity varied from mild involvement with complete responsiveness to levodopa to severe dystonia precluding any voluntary activity including talking, progressive contractures, and only partial responsiveness to levodopa. Although there are several possible reasons for intrafamilial variability, any patient with dystonia, the cause of which is not clearly identified, should receive a trial of levodopa.

Antiparkinson Agents↗

Conductive education at the Petö Institute, Budapest.

Conductive education, which was developed at the Petö Institute in Budapest, has been publicised incorrectly as a method of treatment for children with cerebral palsy. From the results of information given and our own observations during a week's visit to the institute we conclude that a minority of carefully selected children with cerebral palsy and spina bifida, who have a relatively good prognosis, are educated at the institute; the education is carried out with appropriate medical, surgical, and orthotic intervention; and the children probably function better as a result of the intensive programme than do similar children in Britain in areas where therapy is scarce. They seem to achieve, however, what we would expect similar children in Britain to do when facilities are adequate. Though our findings do not therefore justify using public funds to refer children to the institute, some (self selected) families benefit from a visit, particularly from the positive attitudes of the staff. The role of the conductor and the integration of programmes into a classroom setting have much to recommend them, and conductive education, if successfully transferred to Britain, might be beneficial to a wider range of children than in Hungary.

Activities of Daily Living↗

Three children with partial trisomy 1q and partial monosomy 3p.

We report a kindred in which three children suffer from partial trisomy 1q and partial monosomy 3p, transmitted by a balanced translocation which is maternal in one family and paternal in the other. The clinical features of the three children are similar and include severe mental handicap and severe scoliosis in the older two.

Child↗

Ablepheron macrostomia syndrome.

Two male children are reported with similar features, including absent eyelids, eyebrows, eyelashes and hair, fusion defects of the mouth, expressionless facies, rudimentary external ears (but normal hearing), ambiguous genitalia, absent or rudimentary nipples, coarse dry skin with redundant skin folds and delayed expressive language development. The relationship of this syndrome to previously reported cryptophthalmos syndromes is discussed.

Child↗