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)

Clobazam, an anxiolytic 1,5-benzodiazepine, has been evaluated as an anticonvulsant in 2 animal models. In mice showing sound induced seizures, clobazam, 1--4 mg/kg, i.p., blocked seizure responses for 1--2 hr. In Senegalese baboons Papio papio showing photically induced myoclonus or seizures, clobazam, 2--12 mg/kg, i.v., totally prevented such responses for up to 6 hr. In baboons pretreated with allylglycine, 170--185 mg/kg, a similar but briefer protection was induced by clobazam. Neurological toxicity was not prominent (transient, slight nystagmus after clobazam, 2--6 mg/kg; muscular hypotonia after clobazam, 12 mg/kg). The possibility that 1,5-benzodiazepines are superior to 1,4-benzodiazepines in the therapy of epilepsy requires clinical investigation.
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PMID:Anticonvulsant action of a 1,5-benzodiazepine, clobazam, in reflex epilepsy. 9 17

Two new 1,5 benzodiazepines have been evaluated acutely as anticonvulsants in baboons, Papio papio, with photosensitive epilepsy. BAU 426 (8-Chlor-6-[2-chlorphenyl]-4H-s-triazolo-[4,3-a] [1,5-benzodiazepin-5-[6-H]on) and BAU 500 (analogue of BAU 426 with [2-trifluor methylphenyl] substituted for [2-chlorphenyl]), 0.1--5.0 mg/kg, were administered i.v. to baboons with and without priming with D,L allylglycine. BAU 426 or BAU 500, 0.1--0.2 mg/kg, produced partial or transient protection against photically induced myoclonus or epileptic responses. Complete protection, in the absence of signs of sedation or acute neurological toxicity, was seen 1--4 h after 0.5--2 mg/kg. EEG changes typical of benzodiazepines were seen for 1--3 h and clinical signs of sedation with some muscular hypotonia were evident for 1 h after either drug, 5 mg/kg. Clinical trials are required to determine if these compounds are superior to 1,4 benzodiazepines as anticonvulsants.
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PMID:Anticonvulsant activity in photosensitive baboons, Papio papio, of two new 1,5 benzodiazepines. 10 5

Leigh's disease is one of the mitochondrial encephalomyopathies. This article presents a 7-month-old baby boy who had been well-being since birth until 6 months of age when episodic downward gaze of both eyes with limitation of horizontal eye movement were noted. This episode of cranial nerve palsies lasted about 4-5 days and subsided spontaneously. The second attack was noted one month later, to be associated with hypotonia and truncal ataxia. Episodic hyperventilation with resultant gasping and myoclonus was noted at the third attack but spontaneous respiration resumed soon with persistent ophthalmoplegia and truncal ataxia. Lumbar puncture, brain MRI, amino acid assay and cardiac echo all showed negative finding. The oral glucose lactate stimulation test revealed an elevation of lactic acid, brain stem evoked potential indicated bilateral obscure 4th and 5th waves, and muscle biopsy showed ragged red fibres with aggregation of structurally abnormal mitochondria noted under electron microscope. Coenzyme Q, thiamine and carnitine had been given before biochemical study; however, the neurological symptoms did not show any improvement. Biochemical study finally revealed normal respiratory chain enzymes including NADH-coenzyme Q reductase, succinate coenzyme Q reductase and cytochrome c oxidase while other enzymes were technically unavailable for study. Unfortunately the patient died at 18-month-old due to respiratory failure.
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PMID:Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. 184 64

We report a case in which rhythmical myoclonus and tremor at rest revealed a thalamo-subthalamic metastasis from a bronchial carcinoma. Tremor of the upper limbs and face (4 Hz) disappeared with sustained posture and action. A cogwheel phenomenon, hypotonia and disorders of automatic and voluntary movements were also present. Surface electromyographic recordings showed a rhythmical, synchronous activity of the biceps brachialis and triceps muscles at rest. Pathology disclosed lesions of the red nucleus and neighbouring area and severe compression of the substantia nigra which were likely to be the cause of the signs and symptoms.
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PMID:[Rhythmical myoclonus and tremor at rest disclosing mesencephalic metastasis]. 235 1

Biopsy and autopsy findings in a girl who died at 7 1/2 months after having suffered from progressive axial hypotonia, myoclonus, EEG changes and retarded psychomotor development. Inclusions consisting of lamellar profiles, situated in membrane-bound cytosomes were found mainly in astrocytes, but also in neurones and in axons of peripheral nerves. Lipofuscin bodies were also increased in number. The patient belongs in the same category as cases studied by Towfighi et al. (1975) and Martin et al. (1977). Etiology and pathogenesis of this syndrome remain unknown. It is suggested, however, that the pathological changes observed might have been caused by the administration soon after birth of anti-epileptic drugs (diphenylhydantoin, clonazepam and nitrazepam).
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PMID:Encephalopathy with astrocytic residual bodies. Report of a case and review of the literature. 298 Jan 2

Two siblings with consanguineous parents began having myoclonic jerks at age 5 months after introduction of mixed feeding. There was later developmental regression. The elder girl died without diagnosis aged 1 year, after prolonged continuous hyperventilation. The younger sibling did not have metabolic acidosis when first investigated for myoclonus and hypotonia aged 5 months. At 9.5 months, when intermittently decerebrate and hyperventilating, she had a metabolic acidosis with elevated blood lactic, pyruvic and beta-hydroxybutyric acids, and beta-hydroxyisovaleric aciduria. On the assumption that she had beta-methylcrotonyl-CoA carboxylase deficiency she was started on biotin, 10 mg daily. Within 36 h there was dramatic clinical and biochemical improvement. Previously defective eye movement control and gaze became normal, hyperventilation ceased, and excessive organic acid excretion in urine was abolished. She remains on long-term biotin and at age 2 years her development appears normal in all respects. Fibroblast culture however revealed normal quantities of the enzymes beta-methylcrotonyl-CoA carboxylase, propionyl-CoA carboxylase and pyruvate carboxylase. Irrespective of niceties of enzyme and organic acid biochemistry, the clinician must be aware of biotin-reversible regressive brain disease which may present before manifest metabolic acidosis.
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PMID:Biotin-reversible neurodegenerative disease in infancy. 308 40

The clinical symptoms of cerebellar dysfunction are reviewed in relation to modern concepts of cerebellar physiology. Special attention is given to their topodiagnostical significance. Hypotonia, hyporeflexia, asthenia, delayed onset and offset as well as slowing of voluntary movement, ataxia, dysmetria, tremor and myoclonus result from damage of the lateral cerebellar hemispheres and the dentate nucleus. Three different key patterns of postural ataxia result from lesions of the anterior lobe, the vermal part of the vestibular cerebellum and dysfunction of cerebellar afferences respectively. The long latency response (M3) is significantly prolonged in patients with anterior lobe atrophy. Oculomotor symptoms mainly result from either lesions of the cerebellar flocculus, causing dysfunction of retinal-image stabilization or from damage to the dorsal vermis (VI and VII) and the fastigial nuclei, resulting in saccadic dysmetria.
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PMID:Clinical symptoms of cerebellar dysfunction and their topodiagnostical significance. 671 11

The clinical findings in six patients from three families with 4-hydroxybutyric aciduria are described. The onset of disease was in early infancy in all cases. All infants presented with severe global delay and severe hypotonia, and all patients had seizure disorder. Eye findings included optic atrophy in two patients, and retinitis pigmentosa in one. Three patients had choreoathetosis, two had myoclonus and one had severe dystonia. The urine 4-hydroxybutyric acid was 300-1000 times that of normal, and other organic acids related to its further metabolism or to its inhibitory effect on beta-oxidation were also increased. The administration of vigabatrine rapidly reduced the excretion of 4-hydroxybutyric acid promptly, and in the long-term its excretion could be kept at 80-200 times that of normal. However, the clinical course of the disease improved in only two, remained the same in two, and worsened in the remaining two patients.
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PMID:4-Hydroxybutyric aciduria. 772 83

Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. Myoclonus developed immediately after birth and was well controlled with high-dose valproate. Electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. Magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus.
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PMID:Fryns syndrome: neurologic findings in a survivor. 778 99

A 6-month-old female infant was diagnosed with Leigh syndrome after an abnormal muscle specimen was obtained and after magnetic resonance imaging demonstrated characteristic cranial lesions. She presented with episodic hyperventilation, myoclonus, ophthalmoplegia, hypotonia, and elevation of lactate in the cerebrospinal fluid and blood. A series of cranial ultrasounds revealed progressive ventricular enlargement before the typical lesions were detected by magnetic resonance imaging. Myelin destruction is believed to play an important role in the early stage of Leigh syndrome. Ultrasonography may provide a convenient way to document changes in brain that provide early suspicion of Leigh syndrome.
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PMID:Leigh syndrome with progressive ventriculomegaly. 806 Apr 29


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