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)

Hypnosis is able to induce a state of total psychological calm in very many subjects, including maintenance or even enhancement of their ability to cooperate. A smaller number of more receptive subjects may even achieve ocular anaesthesia, though this is not suitable for the performance of operations because the Dagnini-Aschner reflex persists and hypotonia is not attained. It is considered, therefore, that the association of hypnosis, retrobulbar pharmacological anaesthesia, and akinesia offers the best conditions for the performance of operations involving major opening of the eyeball, such as those associated with cataract, i.e. psychological tranquility with the ability to cooperate, anaesthesia with neurovegetative areflexia, hypotonia, and a postoperative course undisturbed by coughing and vomiting. The results of several years' experience have shown the complete suitability of the method and its wide possibilities of application.
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PMID:[Hypnosis in ophthalmology]. 118 37

Fifty consecutive children with cerebellar medulloblastoma were operated on May, 1971 to December, 1988. At 5 and 10-years, actuarial survival rates were respectively 46% & 42%. To determine prognostic factors, various clinical and histological features were analysed: multivariate analysis showed that increased vascularity, coagulative necrosis, and postoperative clinical status have a significant influence survival. When necrosis and/or increased vascularity were present (H+), the 5-year survival rate was 17%, whereas it was 70% when absent (H-) (p less than 0.0001). Postoperative clinical status was described as poor when neurological symptoms such as vigilance or vegetative disorders, akinesia, hypotonia, apragmatism, mutism and emaciation were associated; the 5-year survival rate was 10% in the presence of such deficits (C+) and 55% in their absence (C-) (p = 0.0002). From these results, 2 distinct groups were identified: Group 1: 23 patients without pejorative factors (H- and C-); 5 and 10-year survival rates were 80%. Group 2: 27 patients with one or two pejorative factors (H+ and/or C+); 5 and 10-year survival rates were respectively 18% and 12% (p. less than 0.0001). From our experience, it appears that histology and postoperative clinical status can be early predictors of patient outcome, since neurosurgical and radiation therapy techniques have been largely optimized. These factors could be the basis for developing adapted treatment protocols.
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PMID:[Medulloblastoma in children. Prognostic incidence of vascular hyperplasia, coagulation necrosis and postoperative clinical state on survival]. 160 34

The paralysis due to lesions of the cortico-spinal tract disturb movements in their different modes while dissociated paralysis result from cortical and particular biopercular lesions. Movements cannot be executed on command whereas they are accomplished in their total complexity when they accompanied certain emotional states or when they are part of an automatic activity. Such a dissociation suggest that the motor program which does not respond to voluntary command will eventually be applied thanks to emotional or affective stimuli. Basal ganglia lesions induce other symptoms. The first to be observed concern the movements and postures implied in automatic series after learning. Akinesias which results from these lesions can be partially controlled by a voluntary command, particularly when helped by sensori stimuli. Such symptoms are observed sometimes from its beginning in the Parkinson's disease. Emotion and sleep are also able to improve these akinesias: therefore they appear either on a deficitary form implying a sensitive reinforcement or on a hyperactive form, which is alleviated by hypotonia and sleep. The localized lesions of striatum or of pallidum provoke identical symptoms but at the interruption of akinesia, a distortion of movement appears, contrary to what is observed in Parkinson's disease. Mechanisms of anticipation and adjustment of postural reaction are disturbed concerning not only the body axis but also the different segments of the limbs. This disturbance provokes unsteadiness and sometimes falls. At the level of the limbs the anomaly of postural reactions slows down the movement and disturbs specially the repetitive gestures.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Akinesia and associated motor involvement in Parkinson's disease and basal ganglia lesions]. 226 22

Retrobulbar anaesthesia in cataract surgery is advocated so as to decrease anaesthetic risk. The technique of anaesthesia was studied in 100 patients. The study was based on two principles: firstly, it was the anaesthetist who performed the retrobulbar anaesthesia; secondly, retrobulbar anaesthesia was a matter of deliberate choice and not done upon contra-indication of general anaesthesia. After describing the means used in obtaining anaesthesia, akinesia and efficient hypotonia of the eye, the results of the series are reported. The advantages of retrobulbar anaesthesia are discussed. The absence of noxious side-effects is stressed. This anaesthetic technique should be used more often regardless of the patient's condition.
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PMID:[Retrobulbar anaesthesia in cataract surgery revisited]. 377 70

In this report the authors describe the phenotype of a female newborn with trisomy 15 mosaicism and double aneuploidy (47, XX, +15/47, XXX). Comparison with the two other patients with trisomy 15 mosaicism reported up to now, reveals a distinct phenotype with typical craniofacial dysmorphism, severe hypotonia and general symptoms and signs compatible with a fetal akinesia sequence.
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PMID:A specific phenotype associated with trisomy 15 mosaicism. 821 20

We report on two sisters of first degree cousin parents who were born with severe hypotonia, arthrogryposis multiplex congenita (AMC) and dysmorphic features consistent with the fetal akinesia/hypokinesia sequence. They needed assisted ventilation and each died at the age of 5 months. Both had type II lissencephaly (cobblestone lissencephaly) which was visualized by magnetic resonance imaging (MRI) in the proband. Ophthalmic evaluation revealed no ocular malformations in either of them. Brain auditory evoked potentials (BAEP) revealed bilateral severe sensorineural hearing loss in the proband, whereas an MRI-guided open muscle biopsy of the sartorius muscle (the only remaining thigh muscle) showed features of muscular dystrophy. Immunohistochemistry revealed normal dystrophin, dystrophin-associated glycoproteins (DAG) and merosin. Certain clinical and pathological features distinguish the disease seen in these sisters from reported isolated cases where lethal AMC was associated with brain dysplasia and from the main syndromes of congenital muscular dystrophy/cobblestone lissencephaly. Differences from the Walker-Warburg syndrome, which simulates it in severity, included the absence of severe hydrocephalus, normal creatine kinase (for age) and minimal (mainly periventricular) white matter abnormalities. The findings suggest either an independent entity, in the studied family, or an allelic variation of the cobblestone lissencephaly (type II lissencephaly) syndrome.
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PMID:Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome? 905 48

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 studied seven patients (fetuses/infants) from six unrelated families affected by central core disease (CCD) and presenting with a fetal akinesia syndrome. Two fetuses died before birth (at 31 and 32 weeks) and five infants presented severe symptoms at birth (multiple arthrogryposis, congenital dislocation of the hips, severe hypotonia and hypotrophy, skeletal and feet deformities, kyphoscoliosis, etc.). Histochemical and ultrastructural studies of muscle biopsies confirmed the diagnosis of CCD showing unique large eccentric cores. Molecular genetic investigations led to the identification of mutations in the ryanodine receptor (RYR1) gene in three families, two with autosomal recessive (AR) and one with autosomal dominant (AD) inheritance. RYR1 gene mutations were located in the C-terminal domain in two families (AR and AD) and in the N-terminal domain of the third one (AR). This is the first report of mutations in the RYR1 gene involved in a severe form of CCD presenting as a fetal akinesia syndrome with AD and AR inheritances.
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PMID:Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. 1456 37

Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the presence of distinct rod-like inclusions "nemaline bodies" in the sarcoplasm of skeletal muscle fibers. To date, ACTA1, NEB, TPM3, TPM2, TNNT1, and CFL2 have been found to cause NM. We have identified recessive RYR1 mutations in a patient with severe congenital NM, through high-throughput screening of congenital myopathy/muscular dystrophy-related genes using massively parallel sequencing with target gene capture. The patient manifested fetal akinesia, neonatal severe hypotonia with muscle weakness, respiratory insufficiency, swallowing disturbance, and ophthalomoplegia. Skeletal muscle histology demonstrated nemaline bodies and small type 1 fibers, but without central cores or minicores. Congenital myopathies, a molecularly, histopathologically, and clinically heterogeneous group of disorders are considered to be a good candidate for massively parallel sequencing.
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PMID:Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing. 2240 9

Heterozygous mutations in dynamin 2 (DNM2) have been linked to dominant Charcot-Marie-Tooth neuropathy and centronuclear myopathy. We report the first homozygous mutation in the DNM2 protein p.Phe379Val, in three consanguineous patients with a lethal congenital syndrome associating akinesia, joint contractures, hypotonia, skeletal abnormalities, and brain and retinal hemorrhages. In vitro membrane tubulation, trafficking and GTPase assays are consistent with an impact of the DNM2p.Phe379Val mutation on endocytosis. Although DNM2 has been previously implicated in axonal and muscle maintenance, the clinical manifestation in our patients taken together with our expression analysis profile during mouse embryogenesis and knockdown approaches in zebrafish resulting in defects in muscle organization and angiogenesis support a pleiotropic role for DNM2 during fetal development in vertebrates and humans.
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PMID:Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome. 2309 55


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