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)

We report on 2 brothers with a distinctive facial appearance, severe mental retardation, short stature, cryptorchidism, asplenia in one, dramatic failure to thrive, early hypotonia, and later hypertonia all suggestive of the Smith-Fineman-Myers syndrome. All 5 of the reported cases have been males, suggesting X-linked inheritance.
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PMID:Smith-Fineman-Myers syndrome in two brothers. 1075 Oct 95

Cf the 87 survivors of extracorporeal membrane oxygenation over a 10-year period, 67 participated in a follow-up study which included neurologic examination (n = 67), cognitive testing (n = 67), and audiologic assessment (n = 33). Matched control subjects for those older than 5 years were also evaluated. Outcome was defined as normal for cognitive scores greater than or equal to 85 and normal neurologic examination results, suspect for cognitive scores 70 through 84 or nonfocal neurologic findings such as hypertonia/hypotonia, and abnormal for cognitive scores less than 70 or abnormal neurologic examination results. Of the 10 school-aged children studied, 9 were normal and there were no differences in mean cognitive scores between subjects and controls (IQ subjects = 109 +/- 12 [SD], IQ controls = 107 +/- 13). For preschoolers aged 2.7 through 4.11 years, the mean cognitive score was 91 +/- 11 and 7 (70%) were normal. For infants 6 through 30 months, the mean cognitive score was 101 +/- 22 and 27 (57%) were normal. A total of 7 children (21% of those studied) had abnormal audiologic assessments. Three children demonstrated mild high-frequency and 4 moderately severe high-frequency sensorineural hearing loss which was bilateral in 3 and of undetermined laterality in 1. Abnormal neurodevelopmental outcome was significantly associated with cerebral infarction and chronic lung disease. Outcome was not related to demographic or perinatal variables, illness severity prior to extracorporeal membrane oxygenation, or underlying diagnosis. Neurodevelopmental outcome among survivors of extracorporeal membrane oxygenation in this series is consistent with previous reports of morbidity among neonates with severe respiratory failure treated conventionally.
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PMID:Ten years of extracorporeal membrane oxygenation: neurodevelopmental outcome. 170 57

Infantile spasms usually start during the first year of life and constitute one of the most difficult types of epilepsy to treat. They carry a very poor prognosis for both epilepsy and mental development. Seventy children, including 47 infants, with intractable infantile spasms were entered into an open study with vigabatrin as add-on therapy to the usual anticonvulsant treatment. All were resistant to previous treatments, including corticosteroids (43 patients), carbamazepine, benzodiazepines, and sodium valproate. Two children withdrew from the study because of intolerance to vigabatrin (hypotonia or hypertonia) before evaluation of efficacy could be made. Of the remaining 68 children, 29 (43%) showed complete suppression of spasms. Forty-six children had a greater than 50% reduction in spasms. The best response was observed in those with tuberous sclerosis (12/14 compared with 12/18 with symptomatic infantile spasms of other origin and 22/36 with cryptogenic infantile spasms). Following the initial response to treatment of these patients (n = 68), a long-term response was confirmed in 75% of children with symptomatic infantile spasms and 36% of children with cryptogenic infantile spasms. In eight children, all other anticonvulsant medication could be definitively withdrawn. Tolerability appeared excellent, with 52 of 70 patients reporting no side effects. Somnolence, hypotonia, weight gain, excitation, and insomnia were the most common problems at the beginning of the study and were usually transient. Given the poor prognosis of this type of childhood epilepsy, vigabatrin appears to be a very interesting advance in the management of drug-resistant infantile spasms.
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PMID:Therapeutic trial of vigabatrin in refractory infantile spasms. 194 Jan 25

A new approach for the treatment of serious and/or uncurable glaucoma is proposed by the adjonction of a drain, cut in a crinotube, with micro-perforations and set in the classical opening of a trabeculectomy. In four years, for nine cases of particularly severe hypertonia, we observed one relative unsuccess, three real and stable improvements during two years and then with the necessity of local treatment (for rather young patients), and five clear and till today durable improvements. We have also observed a very good local tolerance for all cases, with never a persisting major hypotonia. This simple and efficient process seams susceptible to find its room in the treatment of severe hypertonia.
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PMID:[How to intubate the eye in severe glaucoma?]. 220 26

Most inborn errors of intermediary metabolism presenting in the neonatal period fall schematically into three clinical categories: (1) those which lead to a neurological distress 'intoxication type' with a symptom-free interval, vomiting, comas, hypertonia, abnormal movements and frequent humoral disturbances (organic acidaemias, congenital urea cycle defects); (2) those which lead to a neurological distress 'energy deficiency' type. Frequent symptoms in this group include hyperlactacidaemia, severe hypotonia, cardiomyopathy, failure to thrive and malformations (congenital lactic acidaemias, fatty acid oxidation defects, peroxysomal disorders); (3) those which present evidence of liver dysfunction and hepatomegaly (glycogenesis, neoglucogenesis defects, galactosaemia, fructosaemia, tyrosinaemia type I). According to these three major clinical presentations and according to the proper use of few screening tests (blood gases, glucose, ammonia, lactic acid, electrolytes, acetest), we propose a method of diagnosis which groups these children into five schematical syndromes: type I MSUD; type II organic acidaemias; type III; congenital lactic acidosis; type IVa, urea cycle defects; type IVb, non-ketotic hyperglycinaemia, sulfite oxidase deficiency, peroxisomal disorders; type V liver dysfunctions. Once the above classification has been made, sophisticated and specific investigations can be planned (amino acid chromatography, organic acid chromatography, enzymatic studies, etc).
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PMID:Clinical approach to inherited metabolic disorders in neonates. 226 19

Baclofen, the most effective drug for treating spasticity, is a specific agonist of gamma-aminobutyric acid-B receptors, and is very abundant in the superficial layers of the spinal cord. Given orally, baclofen does not easily penetrate the blood-brain barrier, and is distributed equally to the brain and spinal cord. Direct intrathecal administration was given in order to change the distribution of the drug by preferentially perfusing the spinal cord. Eighteen patients presenting a severe spastic syndrome were treated with chronic intrathecal infusion of baclofen in the lumbar cerebrospinal fluid. After clinical preselection, 38 patients were implanted with a lumbar access port allowing long-term trials in order to determine the efficacy of baclofen therapy and the effective 12-hour dose. The 18 patients selected for chronic administration were implanted with a programmable pump. The pathology in these cases was: multiple sclerosis (6 cases), posttrauma spastic syndrome (eight cases), and (one case each) cerebral palsy, ischemic cerebral lesion, spinal ischemia, and transverse myelitis. The mean follow-up period was 18 months (range 4 to 43 months). The clinical results were evaluated according to muscular hypertony on Ashworth's scale (changed for occurrence of painful spasms) and functional improvement. Results were better for spastic syndrome secondary to traumatic medullary lesion than for demyelinating disease. Hypertonia was improved in all cases as confirmed by the registration of the Hoffman (H) reflex. Painful muscular spasms disappeared in 14 of the 16 affected patients. Significant functional improvement was noted in nine patients and was considerable in three. The risk of side effects secondary to overdose (such as excessive hypotonia or central depression) and the absence of a specific baclofen antagonist stresses the necessity for accurate determination of the efficient dose. After an initial titration period and adjustment of the therapeutic dose, the individual doses were from 21 to 500 micrograms/24 hrs (mean 160 micrograms/24 hrs). This new conservative method is very effective, perfectly reversible, and safe when administered in conditions favorable to its use.
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PMID:Chronic intrathecal baclofen administration for control of severe spasticity. 230 74

Two cases of cervical myelopathy, which exhibited peculiar vasomotor symptoms ("acro-erythro-cyanosis") on distal regions of the four limbs are reported. Continuous reddening, swelling and skin temperature increase were observed on both hands and feet in case 1, a-44-year-old man, and on both hands in case 2, a-47-year-old man. Cold stimulation resulted in cyanosis and decrease of skin temperature on the affected regions paroxysmally. The condition of skin at room temperature may be caused by arteriectasia of arterioles due to hypotonia of vasomotor fibers, and this was similar to erythromelalgia. On the other hand, cold stimulation may have led to this condition, where the contraction of skin arterioles due to hypertonia of vasomotor fibers was added to the dilation of venule, and this was similar to acrocyanosis. Consequently, we provisionally named the vasomotor symptoms in the present cases as "acro-erythro-cyanosis". The other neurological signs were as follows. Case 1: mild weakness in right upper and lower limbs and left small hand muscles, mild superficial and deep sensory disturbance on bilateral palms and soles and decrease of vibration on bilateral lumbar regions and thereunder. Case 2: mild weakness of right small hand muscles, superficial sensory disturbance on distal regions of bilateral upper and lower limbs and a decrease of joint position sense on right hand. Myelography and metrizamide CT myelography revealed a high-degree deformity of the spinal cord due to the herniated disks between C4 and C5 in case 1 and between C3 and C4 in case 2.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:["Acro-erythro-cyanosis"--peculiar vasomotor symptoms due to cervical hernial myelopathy]. 235 Sep 26

A six-month-old female gypsy child, the daughter of second degree cousins, born after a full-term pregnancy and normal delivery, is described. There was generalized neonatal edema. Abnormalities included psychomotor retardation from birth and progressive appearance of facial dysmorphism, organ enlargement, axial hypotonia, hypertonia in limbs, myoclonic jerks, optic atrophy and bilateral cherry-red spots. The diagnosis of GM1 type 1 gangliosidosis was confirmed by biochemical, enzymatic and ultrastructural findings.
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PMID:A case of GM1 gangliosidosis type I. 250 Jun 29

Functional methionine synthase deficiency is generally characterized by homocystinuria and hypomethioninemia in the absence of methylmalonic aciduria. Patients are divided into two classes, cblE and cblG, on the basis of complementation analysis. Presentation has usually been in the first 2 years of life, but one patient came to medical attention at age 21 years with symptoms initially diagnosed as multiple sclerosis. Common findings among 11 patients (4 with cblE and 7 with cblG) have included megaloblastic anemia (all patients) and various neurological deficits including developmental retardation (10 patients), cerebral atrophy (8 patients), hypotonia (7 patients), EEG abnormalities (6 patients), and nystagmus (5 patients). Hypertonia, seizures, blindness, and ataxia were less frequent. All patients have responded to therapy with cobalamin with resolution of anemia and biochemical abnormalities; neurological deficits resolved more slowly and in some cases incompletely. Hydroxycobalamin has been more effective than cyanocobalamin. Fibroblasts from patients with cblE (5 patients) and cblG (6 patients) all showed decreased intracellular levels of methylcobalamin (MeCbl) and decreased incorporation of label from 5-methyltetrahydrofolate into macromolecules, suggesting decreased activity of the MeCbl-dependent enzyme methionine synthase. Methionine synthase specific activity in extracts of all cblE fibroblasts was normal or near-normal under standard reducing conditions; synthase specific activity in extracts of 5 cblG patients was low but was high in a 6th patient measured in another laboratory. Thus, there is heterogeneity among patients with functional methionine synthase deficiency both in clinical presentation and in the results of biochemical studies of cultured cells.
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PMID:Functional methionine synthase deficiency (cblE and cblG): clinical and biochemical heterogeneity. 268 21

This article presents the results of a multiple baseline design, across subjects, to assess the effect of vibratory stimulation on head-erect behavior in subjects who were prone. The subjects were three children with severe multiple handicaps whose mean age was 2 years 4 months and whose conditions included seizures and muscle tone disorders. Frequency of head lifts and cumulative duration of head-erect behavior were recorded during three-minute sessions with the subjects positioned prone on their forearms over a wedge. After baseline observations were recorded, vibration was applied to the paraspinal muscles of the neck and upper back for the first two minutes of each intervention session. In addition, electromyographic activity was recorded for a three-minute session at least once during both the baseline and intervention conditions. Results of the study demonstrated an increase in the cumulative duration of head-erect behavior for the three subjects and an accompanying increase in EMG activity during muscle vibration. The diversity of handicapping conditions (ie, seizures, hypertonia, and hypotonia) appeared to have no effect on the benefits received from muscle vibration for these subjects. Limitations of the study and implications for future research are discussed.
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PMID:Head-erect behavior among three preschool-aged children with cerebral palsy. 295 13


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