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)

A female child with brachycephaly, hypertelorism, convergent strabismus, interstitial keratitis, analgesia on both sides of the face, absent corneal reflexes, and focal congenital alopecia of a zone of the occipital and posterior parietal scalp is presented. The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit consisting of gait and truncal ataxia. There was no clinical evidence of other cranial nerves being affected. It is postulated that the patient has a cerebellotrigeminal and focal dermal dysplasia due to a development arrest of the ectoderm, which gives rise to the alar plate of the rhombencephalon, the overlying epidermis, the motor nucleus of V, and the trigeminal placodes.
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PMID:Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. 9 27

A 23-year-old man had slow psychomotor development at 6 months of age and developed intermittent corneal clouding at about 18 months. He developed a truncal ataxia and hypotonia of the limbs combined with spasticity and active deep reflexes that did not progress. His skeleton and facies were normal. Between 1 and 13 years of age, he developed severe optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single-membrane-limited vacuoles containing lamellated membranes and a polymorphous substance in tissue-cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 16 96

A man now 22 years of age had slow psychomotor development about 6 months after birth and developed intermittent corneal clouding at about 18 months. He developed truncal ataxia, hypotonia of the limbs combined with spasticity, and active deep reflexes. These have not progressed. His skeleton and facies are normal. Between his first and thriteenth year he developed sev ere optic atrophy, absence of retinal blood vessels, and an extinguished electroretinogram. Biochemical analysis of cultured fibroblasts indicated no lysosomal hydrolase deficiency; cellular metachromasia was absent and there was no mucopolysaccharidoses. Ultrastructural studies indicated single membrane vacuoles containing lamellated membranes and a polymorphous substance in tissue cultured cells and conjunctiva.
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PMID:A new mucolipidosis with psychomotor retardation, corneal clouding, and retinal degeneration. 17 65

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
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PMID:Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. 41 46

A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase activities were normal in autopsy brain specimens and in cultured fibroblasts from the patient. Carnitine acetyltransferase was deficient in liver, brain, kidney, and cultured fibroblasts. Medium- and long-chain carnitine acyltransferase activities were normal. It is proposed that a functional defect of acetyl-coenzyme A (acetyl-CoA) utilization in brain mitochondria accompanies the carnitine acetyltransferase deficiency.
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PMID:Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation? 57 20

The clinical and pathological details of a case of canine giant axonal neuropathy are presented. An 18-month-old alsatian had hind leg ataxia, weakness, hypotonia and loss of patellar reflexes. Electrophysiological studies demonstrated denervation of the distal hind leg muscles and abnormal nerve conduction velocities. Biopsy and post mortem examination of the peripheral nervous system (PNS) demonstrated large anoxal swellings, up to 28mu in diameter. Electron microscopy showed these swellings to be composed almost entirely of neurofilaments. Similar giant axons were found in the central nervous system (CNS) and the distribution of the lesions in the CNS and PNS was suggestive of a 'Dying Back' disease. The possible aetiology of this new canine condition is discussed.
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PMID:Canine giant axonal neuropathy. 59 96

A method of poisoning cats with thallium is described. The chief functional disturbances in the nervous system are hypotonia and ataxia. The pathological changes are confined to the central and peripheral axons of primary sensory neurones and are of the 'dying back' type. No motor nerve fibre degeneration was found in this species. While extensive degeneration of sensory nerves was found, those in muscle were apparently unaffected. The significance of this anomalous finding is discussed in relation to the mechanism of the 'dying back' process.
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PMID:Sensory neuropathy produced in the cat with thallous acetate. 89 35

The authors present a modification of Foerster's Rhizotomy for the treatment of spasticity in cerebral palsy: functional posterior rhizotomy. The selection of the roots/rootlesses to be sectioned, is accomplished on functional data, based upon the analysis of the reflex responses to the intraoperative lumbar dorsal roots stimulation. With this method it is possible to selectively interfere with the pathological circuits responsible for hypertonia, saving proprioceptive afferences necessary for motor reeducation. The clinical results on hypertonia are the same as for total or partial rhizotomies, but sides effects (ataxia, hypotonia) are considerably reduced.
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PMID:[Functional posterior radiculotomy, in the treatment of cerebral spasticity. peroperative electric stimulation of posterior roots and its use in the choice of the roots to be sectioned]. 95 64

Clonazepam or 5-(2-chlorphenyl)-1, 3-dihydro-7-nitro-2H-1,4benzodiazepin-2-one, is a close structural and pharmacological relative of nitrazepam. It has a broad spectrum of activity against the various types of epilepsy, and is effective in many patients whose condition has proved resistant to other antiepileptic drugs. Its chief uses are in status epilepticus, in which intravenous clonazepam may replace diazepam as the drug of first choice, and in the minor motor seizures of childhood, particularly petit mal absences, the Lennox-Gastaut syndrome and infantile spasms. Clonazepam is also at least as effective as current treatment in psychomotor and myoclonic epilepsies, but seems unlikely to replace phenytoin and the barbiturates in the treatment of grand mal or focal motor seizures except in patients resistant to standard therapy. Initial success with clonazepam can be followed by loss of effect, but benefit can often be restored, at least initially, by temporary interruption and re-institution of treatment. Side-effects are common with clonazepam. Most patients experience drowsiness and fatigue, which are frequent causes of withdrawal, together with lesser incidences of ataxia, dystonia, hypotonia, and hyperactivity. These effects usually disappear with continued therapy, and are minimised by gradual introduction of the drug over 2-4 weeks. Hypersalivation and excessive bronchial secretion may be a problem in children and infants.
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PMID:Clonazepam: a review of its pharmacological properties and therapeutic efficacy in epilepsy. 97 34

Spike discharges of single cerebellar Purkinje cells were recorded continuously with extracellular microelectrodes in unanesthetized curarized rats. The intravenous injection of diphenylhydantoin in doses between 10 and 100 mg kg-1 did not substantially alter the activity of Purkinje cells within 2--3 h. The two benzodiazepines, diazepam and clonazepam, already in low i.v. doses (0.03--0.1 mg kg-1) consistently and reversibly depressed the firing rate. Our results do not support the previously advanced hypothesis that these drugs reduce epileptiform activities by increasing the output from the cerebellar cortex. They rather point to the possibility that a reduced firing rate of cerebellar Purkinje cells mediates at least in part ataxia and muscular hypotonia observed after the drugs.
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PMID:The effect of diphenylhydantoin, diazepam and clonazepam on the activity of Purkinje cells in the rat cerebellum. 101 45


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