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

A mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of alpha-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography--mass spectrometry (GC--MS) confirmed the presence of alpha-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of alpha-ketoadipic acid in urine. Other known causes of alpha-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate dehydrogenase, in spite of the absence of alpha-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1 and B6 were unsuccessful in correcting the biochemical abnormality.
 ...
PMID:Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. 11 47

A total of 244 epileptic children were collected in an epidemiological and prognostic investigation on epilepsy. The children were divided into four groups according to their motor performance. There were 150 children with no motor handicap, 32 with clumsiness, 51 with cerebral palsy and 11 with severe muscular hypotonia associated with grave mental handicap. A study was made of age at onset of epilepsy, intelligence level, maximum frequency of seizures, grand mal status, results of medical treatment, and the time elapsed since the last seizure. A significant correlation was found between severity of motor handicap and poor prognosis of epilepsy.
 ...
PMID:The significance of motor handicap in the prognosis of childhood epilepsy. 12 17

In order to approach the hitherto unknown brain involvement in the XYY syndrome five adult patients with this syndrome were studied clinically and pneumoencephalographically. Clinical manifestations included delayed difficulties of speech and learning, clumsiness, mild intention tremor, muscular hypotonia, convulsions, hyperactivity, distractibility, impulsiveness, weak mental control, psychosexual disturbances and a slight defect of intelligence. All five had committed crimes. Pneumoencephalograms showed general ventricular enlargement of mild or moderate degree. The enlargement of lateral ventricles was unilateral or asymmetrically bilateral. The suprapineal recess of the third ventricle was uniformly enlarged. Small cerebellum and enlarged fourth ventricle were the abnormal findings in the posterior fossa. No cortical abnormalities were found. The clinical and pneumoencephalographic findings suggest a slight non-progressive developmental disorder of the brain resembling the so-called minimal brain dysfunction syndrome. The XYY syndrome appears to be one cause of the male preponderance in minimal brain dysfunction syndrome and criminal psychopathy.
 ...
PMID:Pneumoencephalographic and clinical findings of the XYY syndrome. 71 4

Three boys are described with a mixed developmental disorder, which so far appears to have a relatively good prognosis. Each boy presented in early infancy with visual unresponsiveness, which spontaneously resolved. This delayed visual maturation was accompanied or followed by severe autistic impairment, general developmental delay, hypotonia and clumsiness. Subsequent progress has been unexpectedly favourable, with striking improvements in language, play, social interest and social competence. Widespread, patchy delay in brain maturation could possibly account for this combination of delayed visual maturation and autism, with a good prognosis.
 ...
PMID:Delayed visual maturation and autism. 169 29

The National Institute of Child Health and Human Development Randomized, Controlled Trial of Phototherapy for Neonatal Hyperbilirubinemia was conducted to determine whether phototherapy used to control serum bilirubin is safe and is as effective in preventing brain injury as exchange transfusion. The study, conducted at six neonatal care centers, randomly assigned 1339 newborn infants to phototherapy or control groups by the following subgroups: (1) birth weight less than 2000 g; (2) birth weight 2000 to 2499 g and bilirubin level greater than 171 mumol/L (10 mg/dL); or (3) birth weight greater than or equal to 2500 g and bilirubin level greater than 222 mumol/L (13 mg/dL). Phototherapy was administered for 96 hours, and exchange transfusion was used to control hyperbilirubinemia at the same predetermined levels in both groups. Neurological and developmental examinations were conducted at 1 and 6 years of age, with follow-up rates of 83% and 62%, respectively. The two groups did not differ in mortality or diagnosed medical conditions. The phototherapy and control groups had similar rates of cerebral palsy (5.8% vs 5.9%), other motor abnormalities including clumsiness and hypotonia (11.1% vs 11.4%), and sensorineural hearing loss (1.8% vs 1.9%). The Wechsler Intelligence Scale for Children-Revised scores overall were not significantly different for the two groups (Verbal, 96.8 vs 94.8; Performance, 95.8 vs 95.1 for phototherapy and control groups, respectively). Phototherapy effectively controlled neonatal hyperbilirubinemia without evidence of adverse outcome at 6 years of age and was at least as effective as management with exchange transfusion alone.
 ...
PMID:Phototherapy for neonatal hyperbilirubinemia: six-year follow-up of the National Institute of Child Health and Human Development clinical trial. 223 47

A 6-year-old girl had an excessively rapid longitudinal growth of early onset (height age of 9 years), moderate obesity, large hands and feet, a large dolichocephalic head and facial features as described in Sotos syndrome or cerebral gigantism. In addition, she exhibited mental dullness, hypotonia and clumsiness. CT scanning of the head demonstrated major ventricular anomalies and absence of corpus callosum. Fundoscopy and electroretinography revealed an early stage of atrophic macular degeneration (AMD) with cone dysfunction, bilaterally. Wether this association of cerebral gigantism and AMD is fortuitous or not is unknown.
 ...
PMID:Cerebral gigantism (Sotos syndrome) with juvenile macular degeneration. 741 Jan 7

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.
 ...
PMID:Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. 813 12

Fetal Cytomegalovirus (CMV) infection in early pregnancy usually results in severe neurological handicap and sensorineural hearing loss with typical neuroradiological findings of calcification, migrational anomalies, disturbed myelination, and cerebellar hypoplasia. Infections acquired in late pregnancy have less prominent signs, such as microcephaly, hearing deficits, and minor neurological handicap. We report 7 children who presented with a similar clinical complex of signs: microcephaly, sensorineural hearing impairment, behavior problems with hyperactivity, reduced apprehension for pain in 5 of the 7, ataxia in 3, and hypotonia with clumsiness in 3 others. All manifested mild to severe developmental problems. Cranial CT revealed calcification in 4 of 6 patients. MRI in all 7 children showed patchy to confluent nonprogressive dysmyelination. Only 2 children had acute neonatal signs of congenital CMV infection. We assume that these children acquired CMV infection in the third trimester of gestation, leading to microcephaly, hearing loss, and neurological and developmental problems with typical neuroradiological signs.
 ...
PMID:Late intrauterine Cytomegalovirus infection: clinical and neuroimaging findings. 891 66

This article elucidates the clinical picture in Cohen syndrome (MIM 216550), an autosomal recessive disorder that is overrepresented in Finland. The diagnosis is based on the typical clinical picture: nonprogressive psychomotor retardation, motor clumsiness and microcephaly, typical facial features, childhood hypotonia and hyperextensibility of the joints, ophthalmologic findings of retinochoroidal dystrophy and myopia in patients over 5 years of age, and granulocytopenia. In a nationwide study, 29 Finnish patients were investigated. Magnetic resonance images of the brain with quantitative structure analyses revealed a relatively enlarged corpus callosum (CC). The youngest patients had normal EEGs, while all others had low-voltage EEGs. Of the patients, 22% had profound, 61% severe, 6% moderate, and 11% mild retardation. In an adaptive behavior scale (AAMD), patients had high scores in the positive domains (self-direction, responsibility, and socialization), whereas maladaptive behavior was almost lacking. Only the youngest patients had unimpaired visual function. Vision started to deteriorate early but slowly. Progressive myopia and retinochoroidal dystrophy were found in all of the patients over 5 years of age. All of the patients had isolated granulocytopenia. The heart anatomy was normal. However, decreased left ventricular function with advancing age was found. No significant endocrine abnormalities were discovered. Fingers were slender but short, with a typical metacarpophalangeal pattern profile. The manifestations vary at different ages. The Finnish Cohen patients are clinically highly homogeneous, their disease gene being located on chromosome 8. Heterogeneity probably exists among other patients claimed to have Cohen syndrome.
 ...
PMID:Cohen syndrome: essential features, natural history, and heterogeneity. 1147 3

Converging evidence from different research studies supports a role for the cerebellum in timing neural processes. The cerebellum is part of a distributed system for motor control. The timing hypothesis provides a specific functional role for the unique contribution of the cerebellum. The timing capabilities of the cerebellum appear to extend beyond motor control into tasks focusing on perceptual processing that require the precise representation of temporal information and sensorimotor learning. Behavioral and modeling studies suggest that the cerebellar timing system is best characterized as providing a near-infinite set of interval-type timers rather than as a single clock with pacemaker or oscillatory properties, but this is controversial. In addition to learning precisely timed motor responses, the cerebellum is involved in on-line processing using feed-forward systems for which sensory input is used prior to movement execution to improve movement accuracy. This would be a mechanism for triggering accurate "time." The cerebellum continues to fascinate scientists, and although survival is possible without the cerebellum, the resultant quality of life is significantly compromised with clumsiness, ataxia, hypotonia, dysarthria, slowing of various cognitive perceptual processes, and impaired fine motor and ocular-motor coordination. The last three decades have seen the development of research that has focused on how the cerebellum functions. Further neurophysiologic research in cerebellar cortical neurotransmission is likely to further our understanding of the cerebellar contribution to timing sensorimotor processes.
 ...
PMID:The cerebellum: it's about time! But timing is not everything--new insights into the role of the cerebellum in timing motor and cognitive tasks. 1191 61


1 2 3 Next >>