Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

About 23 percent of the sixty-eight children with cerebral palsy, studied at the Werner-Otto-Institute's Pediatric Rehabilitation Center, suffered from a spastic tetraparesis. About 19 percent suffered from an athetosis; about 20 percent from a hypotonia, including three with cerebellar ataxia. The remainder of the group had minimal sequelae of cerebral palsy; mental problems were predominant. Their orofacial dysfunctions were treated according to the therapeutic concepts of Castillo-Morales.
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PMID:Drooling, chewing and swallowing dysfunctions in children with cerebral palsy: treatment according to Castillo-Morales. 214 27

The diagnosis of postinfectious encephalomyelitis with symmetric lesions in the basal ganglia was confirmed by magnetic resonance imaging in 2 patients. A 7-year-old patient experienced severe dystonia and hyperreflexia; magnetic resonance imaging demonstrated bilateral lesions in the putamina and basis pontes. The other patient, a 2-year-old female, manifested hypotonia, facial grimacing, and athetosis. Symmetric lesions in the globus pallidus and substantia nigra were demonstrated by imaging studies. The nature and monophasic course of illness in these 2 patients, as well as the symmetric involvement of specific regions of the basal ganglia, may result from an immune-mediated postinfectious demyelinating process.
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PMID:Postinfectious encephalomyelitis with localized basal ganglia involvement. 280 90

Two siblings with congenital granule cell hypoplasia of the cerebellum and hippocampus are reported. The patients, both male, showed severe psychomotor retardation, microcephaly, hypotonia, athetosis, and seizures; they died at the ages of 3 7/12 years and 5 10/12 years, respectively. Postmortem examinations in both cases revealed nearly complete absence of the granule cells of the cerebellum with relative preservation of the Purkinje cells. Also absent were the granule cells of the fascia dentata of the Ammon's horns of the hippocampus, without any detectable gliosis; this has not previously been reported. Twenty-three autopsy cases of granuloprival cerebellar hypoplasia are reviewed. The present cases illustrate a singularly unique disease process, comparable to the classical cerebellar hypoplasia experimentally induced by parvoviruses, and suggest a granule cell specific insult to the brain during the late second trimester.
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PMID:Congenital granuloprival hypoplasia of cerebellar and hippocampal cortex. 365 8

We report the clinical findings in 19 Finnish patients, including six pairs of siblings, with a new, early onset spinocerebellar ataxia. The slowly progressive clinical symptoms manifested between one and two years of age in previously healthy infants. The first manifestation of children at that age was clumsiness and loss of ability to walk. Ataxia, athetosis and muscle hypotonia with loss of deep tendon reflexes were discovered on clinical examination. By school age ophthalmoplegia and hearing loss were diagnosed, while sensory neuropathy developed by adolescence. In addition, an acute crisis with status epilepticus was a late manifestation. We found a marked decrease in sensory nerve condition velocities, a progressive loss of myelinated fibers in sural nerve specimen, and abnormal background activity in EEG with advancing age. The main finding in neuroradiological investigations was cerebellar atrophy. The occurrence of the disease in siblings and lack of manifestations in parents indicate recessive inheritance.
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PMID:Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. 813 12

From 1983 to 1991, 13 patients were identified with a clinical radiologic association characterized by acute or persistent neurologic dysfunction and bilateral lesions in the basal ganglia region demonstrated by ultrasound, computed tomography, or magnetic resonance imaging. Initial clinical manifestations of this group of patients were characterized by extrapyramidal signs (i.e., dystonia 9, hypotonia 2, athetosis 1, rigidity 1), altered state of consciousness in 5, and seizures in 3. The outcomes of most of these patients were poor: 10 had motor sequelae, 9 cognitive impairment, and 4 died. The outcomes of 2 patients, however, were much better than what was expected from the initial presentation. Based on current and previous reports, the diagnostic approach and classification of patients with neurologic dysfunction and bilateral striatal lesions are presented.
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PMID:Bilateral striatal lesions in childhood. 829 9

We recently described an infantile onset spinocerebellar ataxia (IOSCA) in 19 Finnish patients. The classification of hereditary ataxias of unknown etiology is difficult because of the heterogeneity of these diseases. The clinical course of IOSCA is homogeneous. Ataxia, muscle hypotonia, athetosis, and loss of deep tendon reflexes in the legs appeared around the age of 1 year. Ophthalmoplegia and deafness were found by school-age, and sensory axonal neuropathy and optic atrophy by adolescence. An acute crisis with epilepsy was a late manifestation. The female patients had hypogonadism. In order to define the type of hypogonadism and to exclude other endocrine defects we measured serum concentrations of SHBG, DHEAS, prolactine, testosterone/estradiol, FSH and LH in postpubertal patients. ACTH, hCG and GnRH tests were performed to both pre- and postpubertal patients. Growth was analysed, and the brain and pituitary region were examined with magnetic resonance imaging (MRI). The estradiol values were low and FSH and LH values were high in the female patients, which indicates that the hypogonadism was of the hypergonadotropic type. The growth of the female patients was steady without a significant pubertal growth acceleration. The growth and pubertal development of the male patients were normal. The adrenal cortical and thyroidea functions were normal in all patients.
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PMID:Primary hypogonadism in females with infantile onset spinocerebellar ataxia. 855 18

Asphyxia may play an important role in the pathogenesis of cerebral palsy (CP) in a subpopulation of patients, although this has recently been questioned by some investigators. Here I describe the results of our analyses into the involuntary movements of children with CP, which resulted from perinatal hypoxic brain damages. Based on cranial CT or MRI findings, the patients were divided into five groups: A, those showing high density on CT in the basal nuclei (bilateral thalami in particular); B, those showing destruction of bilateral putamina; C, those with diffuse low-density areas in the cerebral white matter on CT during the neonatal period that evolved later into polycystic leukomalacia; D, those with similar low-density areas which subsequently resolved; and E, those without any pathological findings. Using video records, I demonstrated the motor development of six cases with CP. Patients of Group A showed pure athetosis with hypotonia. A patient of Group B had severe athetoid CP with spasticity, being unable to right his trunk and neck. A case of Group C developed severe spastic quadriplegia with athetosis. His mental ability was retained to some extent. In Group D, there was moderate spasticity and mild athetosis. A patient with transient anxia had disturbance in the coordinated finger movements. Cases with choreic movements had no particular CT or MRI findings. Even in the severest of these cases, distinction from normal infants was difficult in the very early infancy. After four to five months, locomotive prognoses were well predicted by the patients' ability to control their trunk. To know more about the pathogenesis and CP and to elucidate the significance of involuntary movements, further data should be accumulated by clinical observations on motor development, and by imaging studies.
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PMID:[Involuntary movements and birth injuries to brain]. 914 27

Infantile onset spinocerebellar ataxia (IOSCA, MIM 271245) is a recessively inherited, progressive neurological disease, which we have described in 19 Finnish patients. The clinical symptoms of IOSCA include ataxia, athetosis, hypotonia, hearing deficit, ophthalmoplegia, sensory neuropathy, female hypogonadism, and epilepsy as a late manifestation. We have mapped the IOSCA locus to 10q24. In our two autopsy cases of IOSCA, the neuropathological findings were almost uniform. The cerebral hemispheres were quite well preserved, but the brain stem and the cerebellum were moderately atrophic. The most severe atrophic changes were seen in the spinal cord: in the dorsal roots, the posterior columns and the posterior spinocerebellar tracts. There was a severe neuronal loss in the dorsal nucleus (Clarke's column) of both cases and slight atrophy of the intermediolateral column in one case. The cerebellar peduncles, the inferior olives, the accessory cuneate nuclei and especially the dentate nuclei were atrophic and gliotic. The eighth cranial nerve and nucleus were atrophic. The ventral pontine nuclei and transverse fibers were slightly affected. Tegmental nuclei and tracts, especially sensory structures, were more severely affected. In mesencephalon, there was atrophy of the oculomotor nuclear complex and periaqueductal gray matter. The cerebellar cortex showed patchy atrophy. Degenerative changes were seen in dorsal root ganglia, and there was a severe axonal loss in the sural nerve. The neuropathological picture of IOSCA thus seems close to that reported in Friedreich's ataxia, another recessively inherited usually childhood-onset ataxia.
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PMID:Infantile onset spinocerebellar ataxia with sensory neuropathy (IOSCA): neuropathological features. 987 82

We prospectively studied motor symptoms in 32 patients with CT- or MRI-proven acute pure parietal stroke. A transient, mild, 'pseudoparesis' of the hand (90%), was noted, improved by visual attention and prompting, associated with non-awareness of muscle power (53%), transient soft pyramidal signs (50%), unilateral akinesia (100%) and motor hemineglect (37%) in non-dominant lesions. Lower motoneurone-type atrophy was not observed in this acute phase. We called 'poikilotonia' the striking unpredictable variations in muscle tone, ranging from extreme hypertonia to hypotonia, found in all patients. When maintaining postures, patients showed large oscillations (100%), laterodeviation or levitation of the arm (60%), especially in the case of large or posterior lesions, or, occasionally (3%), motor persistence or even hemicatalepsy (3%). Limb kinetic and manipulatory apraxia, with inadequate organization and anticipation of motor sequences and synergies, motor arrests, perplexity, unrecognizable gestures and loss of bimanual coordination, was a constant finding (100%). Other apraxias (62%) and difficulty in copying intransitive gestures of the hand (84%) were associated with posterior lesions involving the supramarginal gyrus. When reaching towards objects, all patients showed abnormal anticipatory hand shaping, but visuomotor ataxia (3%) was only seen with bilateral posterior stroke. Sensory (70%) or pseudocerebellar (4%) ataxia, was seen in both anterior and posterior lesions. Avoidance behaviors (34%) were not uncommon, but had no localizing value. Of the dyskinesias, hand dystonia (84%) was frequent, but athetosis (16%), asterixis (15%), postural tremor (15%), myoclonus (9%) and stereotypia (9%), were uncommon. The abnormal eye movements were unilateral hypo-akinesia of exploratory saccades (43%), abnormal ipsilateral pursuit and contralateral optokinetic nystagmus in the case of posterior lesions, and oculomotor apraxia with bilateral posterior lesions. In conclusion, parietal motor syndrome can be recognized during bedside examination, and probably reflects the loss of multiple sensory feedback to motor programs, especially those directed to the extrapersonal space.
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PMID:Parietal motor syndrome: a clinical description in 32 patients in the acute phase of pure parietal strokes studied prospectively. 987 53

We reviewed 90 consecutive patients with various neuromuscular diseases and a progressive spine deformity treated with a prefabricated Boston-type underarm corrective brace. Of these, 38 patients had spastic tetraplegia; seven, syndrome-related muscular hypertonia; 24, muscular hypotonia; and 21, myelomeningocele. The mean age at the treatment start was 9.2 years (range, 1.4-17.7 years). Twenty-four were ambulating and 66 wheelchair-bound. Hypotonia was the dominant type of muscle involvement in 49, spasticity in 28, and athetosis in 13 patients. The mean pretreatment Cobb angle was 47 degrees, with a range from 23 to 95 degrees. The mean brace-induced Cobb-angle correction was 60%, thus well comparable to that in idiopathic scoliosis. However, this did not predict favorable treatment results. At the follow-up, on average 3.1 years (range, 1-5.5 years) after weaning from the brace, the brace treatment was successful in 23 patients. Successful was defined as <10 degrees curve progression during the observation time and a good brace compliance. Forty-one patients discontinued the brace treatment, and 19 progressed despite adequate brace wear. Five patients are still in treatment, and two have died. Successful treatment was seen in ambulating patients with muscle hypotonia and short thoracolumbar/lumbar curves measuring <40 degrees as well as in nonambulating patients with spastic short lumbar curves. These types of neuromuscular scoliosis may be the only ones to respond to brace treatment. In other cases, the brace treatment cannot be expected to have a lasting corrective effect although it can be used as sitting support.
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PMID:Brace treatment in neuromuscular spine deformity. 1034 23


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