Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We evaluated, at our institute, 70 females with Rett syndrome between 2 1/2 to 34 1/2 years old. This provided an opportunity of observing the natural history of this condition. The evolution of a subacute encephalopathy of very early onset, maximizing in the second year of life, with slow recovery and devastating sequelae, was recognized. The hyperorality, visual auditory and tactile agnosia with aphasia and seizures resembled symptoms described in human Kluver Bucy syndrome. Over interpretation of behavioral abnormalities as seizures was common. Scoliosis was not a necessary concomitant of age. A consistent biochemical or neurophysiological abnormality was not detectable in understanding the cause and pathogenesis of this disease process. Life span appears to be unaffected though life tables have not yet been established.
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PMID:Rett syndrome--natural history in 70 cases. 308 4

Rett syndrome (RS) is a condition apparently limited to females characterized by normal early development followed by the abrupt loss of acquired function and beginning autistic behavior in late infancy. Manifestations in RS include decelerating head growth, unusual "hand-writing" movements, gait apraxia, neuromuscular tone disturbance, and seizures. No biochemical, hematologic, cytologic, or cytogenetic procedures have been shown to confirm the diagnosis of RS. With the exception of one family with 2 affected half-sisters, all cases have been sporadic. Six profoundly retarded residents of Central Wisconsin Center have manifestations of RS. Three are microcephalic and 3 have head circumferences at or below the 10th centile. All have seizures or abnormal EEG findings and all were ascertained on the basis of characteristic hand movements. No case of precocious puberty was observed. Two patients had severe scoliosis which was surgically treated. Detailed neuropathologic examination should be sought for every case of RS. The development of clearly defined minimal diagnostic criteria and the establishment of an international registry are desirable.
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PMID:Rett syndrome at an institution for the developmentally disabled. 308 7

Musculoskeletal deformity sufficiently severe to require orthopedic surgery is a significant problem in Rett syndrome. Preliminary results from the study of 16 patients suggest deformity in nearly all patients. Eight patients in stage III and seven patients in stage IV showed clinical evidence of scoliosis. Radiographic studies confirmed a structural curve in nine of ten patients studied. Heel cord tightening was seen in nine of 16 patients. Hip instability was identified as an area of potential concern in the Rett patient.
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PMID:The orthopedic management of Rett syndrome. 319 2

Rett syndrome, named after Rett's first description in 1966, evolves typically in 3 stages: after normal early psychomotor development up to the age of 6-24 months, stagnation and regression occur over a few months resulting in severe dementia, loss of speech, of social response and of purposeful hand use. This is accompanied by particular stereotyped hand movements and usually also by deceleration of head growth. The further course is often stable for a prolonged period, or only slowly progressive. Common features are seizures, episodic hyperpnea, scoliosis, spasticity and vasomotor disturbances of lower limbs. Rett syndrome has been observed only in girls, all cases (with 2 exceptions) being sporadic. This is probably explained by a X-linked dominant new mutation lethal in males. The pathogenesis is still unknown: no consistent metabolic, morphologic or neuroradiologic abnormalities have been found. According to some epidemiologic investigations, Rett syndrome affects about 1:15,000 girls and is thus responsible for a considerable proportion of severely retarded girls. Within one year the authors have retrospectively diagnosed 15 cases, which is assumed to represent only about a third of patients in Switzerland.
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PMID:[Rett syndrome: a progressive neurological syndrome in girls]. 370 8

Over the past 10 years (1983-1993) multidisciplinary team at the Child Development and Rehabilitation Center has diagnosed and evaluated 60 females with Rett syndrome aged 13 months to 43 years. Experience with comprehensive management is discussed with focus on feeding difficulties, communication needs, hand function, scoliosis, and deformities. Clinical and radiological assessment of feeding problems is important in deciding whether therapy will allay symptoms or a gastrostomy is indicated. Hand use can be facilitated with appropriate intervention, and a coordinated effort with a communication specialist can develop systems for environmental access. Aggressive physical therapy has been very effective in preventing progression of scoliosis and avoiding surgery. Asymmetrical function is commonly recognized in ambulatory females, and is of neurogenic origin. Psychosocial support and educational plan attempts to collaborate with community services and resources.
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PMID:Management of Rett syndrome: a ten year experience. 756 57

Scoliosis is the most common orthopaedic problem encountered in Rett syndrome. It is characterized by a long C-shaped thoracolumbar curve of neurologic origin. The occurrence of scoliosis in Rett syndrome is age-dependent, with a reported incidence of 36% to 100%. The onset of scoliosis is usually before age 8 years, and rapid curve progression is usually detected early in the second decade. In Rett syndrome, sagittal deformity with excessive kyphosis can progress and necessitates close observation. Orthotic treatment does not alter the natural history of scoliosis or kyphosis. Indications for surgery are curve progression exceeding a 40 degree or 45 degree Cobb angle or curves that cause pain or loss of function. Anterior discectomy, interbody fusion, and posterior fusion with instrumentation can achieve improved correction in young adolescents with significant curves. Surgical intervention should include fusing the scoliotic and the excessively kyphotic segments.
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PMID:Scoliosis in Rett syndrome. 788 24

Rett syndrome is a degenerative neurological disorder with onset between 6 and 18 months of age. Severity of motor impairment is variable; some patients lose the ability to walk whereas others walk nearly normally. Orthopedic problems, which mainly involve the lower limbs and spine, can increase functional impairment and cause discomfort. Abnormal joint alignment in the lower limbs due to muscle contractures requires physiotherapy and orthopedic appliances. Surgery may be necessary, in particular to prevent dislocation of the hip or to correct talipes equinus. Scoliosis is common and unresponsive to conservative therapy and should be treated surgically if severe.
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PMID:[Orthopedic aspects of Rett syndrome]. 832 99

Rett syndrome is a devastatingly disabling neurological disease that is only observed in girls. Scoliosis occurs in roughly half the girls and surgery may be required. Anaesthesia is described in three patients. Sudden death may be a feature of the disease which occurred four weeks postoperatively in one case. Although a long QTc interval may be seen, it did not occur in any of our cases.
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PMID:Anaesthesia for Rett syndrome. 884 83

We present a study of 28-year-old Japanese monozygotic female twins with Rett syndrome (RS). To our knowledge, this is the first report of monozygotic twins with RS from Japanese family. There are some differences between twins about seizures, scoliosis and stereotypical hand movements during adolescence. Monozygosity was confirmed by both blood typing and HLA titers.
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PMID:Japanese monozygotic twins with Rett syndrome. 944 Aug 4

Clinical observations and physiological evidence suggest involvement of the autonomic nervous system (ANS) in Rett syndrome (RS). We studied sympathetic skin response (SSR) and sleep-wakefulness-rhythm (SWR) in patients with RS and discussed involvement of the ANS in reference to the pathophysiology. The age dependent alteration in the parameters in SSR was suggested. Some patients showed absence of SSR and some showed asymmetric involvement of the parameters of the SSR, which suggested involvement of the ANS at a peripheral level and possible influences from higher centers. The asymmetry correlated with side of the scoliosis, but not with handedness or position of the hand on stereotypy. In reference to the scoliosis of RS, asymmetrical involvement of dopamine neurons is suggested, but reduced secretion of melatonin was proposed and possible influence of the sympathetic nervous system for it was discussed. Long lasting abnormalities of SWR as well as leakage of axial atonia into NREM stage are due to an early involvement of noradrenergic neurons. The latter implied the loss of integration of the central ANS. Based on these observations and references, it was speculated that the ANS is involved in RS at various levels from the central to peripheral nervous system.
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PMID:Involvement of the autonomic nervous system in the pathophysiology of Rett syndrome. 945 19


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