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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our previous reports have pointed out that the Rett syndrome (RS) starts from early infancy with autistic behavior and muscle hypotonia, and we have raised the hypothesis in regard to the pathophysiology that RS can be an early developmental disorder of the monoaminergic and indolamine systems. This paper presents the reanalysis of early motor and behavioral features performed on 16 patients. The most frequent complaint was developmental delay, but 2 cases were presented with autistic behaviors. Development showed delay even from head control. Crawling was particularly difficult. Muscle hypotonia was present in all cases. Early autistic behaviors were seen in high degree and the most frequent was the pervasive lack of social association. Autistic behaviors characterizing older autism were seen in various degrees. These findings reconfirm our previous reports and hypothesis. Furthermore, it can be suggested that the onset may even be in the fetal stage and that lesions of specific neuronal systems occurring in early ontogeny could result in specific abnormality in the higher system which manifest later in development, after these structures reach certain levels of maturation.
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PMID:Clinical features of the early stage of the Rett syndrome. 169 43

A chart review of 23 girls diagnosed with the Rett syndrome (RS), seen at Oregon Health Sciences University-Child Development and Rehabilitation Center was conducted to identify specific motor problems. Hypotonia, loss of transitional movements, ataxia, motor apraxia, spasticity, kyphoscoliosis, and foot deformities proved to be characteristics of this syndrome. Clinical experience of the author and other therapists involved in the treatment of girls with RS suggests that physical therapy is useful in the management of these patients to maintain or increase motor skills and control deformities. Therapy techniques the author has found useful are presented and responses unique to RS patients are described.
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PMID:Motor disabilities in the Rett syndrome and physical therapy strategies. 234 13

Nineteen girls with characteristic features of Rett's syndrome, including normal initial development, regression at about 12 months of age, repetitive hand movements, and severe mental handicap were studied. This represents an estimated incidence of one in 30 000 live births (one in 15 000 girls) in the west of Scotland. Although the children were often initially considered to be autistic, they did not conform to this diagnosis as they made good personal contact within the limits of their mental development. The developmental regression was sometimes falsely attributed to vaccination. Each child showed striking involuntary movements and abnormality of tone, varying from hypotonia, which was found only in the youngest, to rigidity, which was common in older girls; this permitted classification into three clinical subtypes. The abnormalities were highly suggestive of an extrapyramidal disorder, and this has implications for further research and possible treatment.
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PMID:Rett's syndrome in the west of Scotland. 241 28

In its typical form, Rett syndrome is characterized by the development, towards the end of the first year of life, of neurologic abnormalities in a formerly healthy girl. Our analysis of 13 observations of "classical" Rett syndrome shows that the most common findings include cognitive regression, autistic behavior, hypotonia, apraxia, and very suggestive stereotyped movements. Two other cases emphasize the problems raised by mild, atypical or incomplete forms. At present, there is no biological or morphological marker for this syndrome whose pathophysiology is unknown. Increased levels of beta-endorphins in the cerebrospinal fluid may prove to be a marker and suggests therapeutic possibilities.
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PMID:[Rett syndrome. A report of fifteen cases]. 253 56

The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, casual homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.
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PMID:Rett syndrome--a review and discussion of syndrome delineation and syndrome definition. 332 94

Forty girls with Rett syndrome were included in a study of behaviour, with particular regard to the hands, before, during and after regression. Data was taken from examination of each girl, and in some cases from detailed developmental histories given by parents, and films taken before, during and after regression. The important findings are shown in two tables and described. Pre-regression abnormalities included hypotonia, jerky incoordination, an excess of patting or waving activity and involuntary movements which included alternate opening and closing of the fingers and twisting of wrists or arms. Hand use did not progress beyond the ten- to twelve-month stage. Language did not develop beyond the stage of one word utterances. When well-developed, the stereotyped hand movements were simple and clumsy, consisting of tapping, rubbing and clasping, with the hand moved as a unit. Before regression hands were usually separate, during regression usually together and thereafter with increasing age inclined to separate again. Voluntary hand use was observed when girls were relaxed and strongly motivated, particularly during musical interactions. The characteristic abnormalities of behaviour in pre-regression Rett syndrome, and hand behaviour in later childhood should allow earlier and more accurate diagnosis.
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PMID:The hands, and the mind, pre- and post-regression, in Rett syndrome. 343 24

Two girls are described who had normal physical and mental development during the first few months of life, documented on home movies in one. Gross motor development slowed during the second half of the first year followed by loss of acquired vocabulary and deterioration of fine motor skills. Linear growth and head growth decelerated. Stereotyped hand movements appeared around 2 to 3 years of age. Early appropriate social responses faded into a vacant stare. Neurological development was characterized by early hypotonia followed by ataxia and finally spasticity. One girl has been followed through adolescence. Additional symptoms in later childhood and adolescence included scoliosis, episodes of hyperpnea, vasomotor disturbances of the legs, and precocious puberty. The patients fit the criteria for a progressive neurological disorder called Rett's syndrome, which results in profound developmental disability and occurs only in girls. Etiology remains unknown.
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PMID:Rett's syndrome: a progressive developmental disability in girls. 397 29

A case report of a 13-yr-6-mo-old girl with the Rett syndrome is provided from an audiovisual program featuring home movies taken from 2 mos of age and onward. The patient shows the following symptoms not previously emphasized in the Rett syndrome: deceleration of head growth (rather than acquired microcephaly), fall-off in linear growth in infancy, early hypotonia, precocious puberty and respiratory alkalosis. Except for the precocious puberty, a second, 35-mo-old, patient has followed the same clinical course with similar laboratory findings.
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PMID:Rett syndrome: a case report from an audiovisual program. 406 61

Two sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox-Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand-wringing. Clumsy self-feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions.
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PMID:Rett syndrome associated with tuberous sclerosis in a male and in a female: evidence for arrested motor and mental development. 751 Sep 33

We describe a girl with a brain-stem tumour and symptoms very similar to those of Rett syndrome (RS). Her early history was uneventful and development was normal (except for hypotonia). At the age of 6 months her development slowed. Subsequently, deterioration occurred and the features characteristic of RS were seen: loss of purposeful hand use, stereotypic hand movements, impaired social contact, decelerated head growth, and ataxia. Cerebral CT at the age of 3 years and 4 months revealed a tumour in the region of the pons and hydrocephalus. We suggest that a pons/midbrain tumour appearing at an early age may affect the developing CNS and cause symptoms similar to those of RS. A possible causal connection between midbrain pathology and RS is supported by this case.
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PMID:Pons tumour behind a phenotypic Rett syndrome presentation. 988 80


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