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)

The authors report three patients suffering since infancy from transient attacks of paresis. The flaccid pareses most frequently affect the extremities in a hemiplegic fashion, but occasionally there is monoparesis or quadriparesis. The laterality and degree of the paresis are variable. Conciousness is always preserved, and in two cases attacks were preceded by ocular motor disturbances (skew deviation, nystagmoid jerks and conjugate deviations). Exceptionally, the transient hemiparesis may be preceded by a grand mal epileptic fit, though they are more likely to appear sporadically and independently of the paretic changes. In the interparoxysmal periods the children showed pronounced hypotonia, hyperkinetic extrapyramidal features and oligophrenia. Neuroradiological procedures have excluded brain anomalies of vascular or other aetiology and simple biochemical analyses were negative. EMG during paretic periods have revealed central motor neuron lesions, while EEG demonstrated non-specific paroxysmal features. A brain-stem dysfunction in the aetiology is postulated.
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PMID:Paroxysmal hemipareses in childhood. 52 Jul 18

Dorsal column lesions in the high cervical region of the monkey result in severe defects of movements projected into space and contactual orienting reactions of the forelimbs. The hindlimbs are less affected provided a pathway through the lateral columns, Morin's tract, remains intact. Interruption of this pathway results in a defect of hindlimb function similar to that of the forelimbs. Cerebellar ablations in monkeys result in postural and movement disorders, including hypotonia of limb extensor muscles. An important mechanism underlying the hypotonia is a depression of the responses to muscle extension of spindle primary afferents owing to a decrease of fusimotor activity. In the decerebellate animal abnormalities of limb trajectory during active movements projected into space (cerebellar "dysmetria") appear to result principally from dysfunction of systems separate from the peripheral fusimotor efferent-spindle afferent reflex arc. Precentral cortical ablation results initially in a contralateral hypotonic hemiparesis, later in a hypertonic hemiparesis. A depression of the responses of muscle spindle afferents occurs during the hypotonic phase, but during the hypertonic phase spindle function returns to normal levels. Accordingly a depression of fusimotor function appears to be important in the hypotonic phase of hemiplegia; however, there is no evidence that an enhancement of fusimotor function underlies the hypertonic phase. Bilateral section of the medullary pyramids results in an enduring hypotonic paresis. Abnormalities of contactual orienting responses of limbs are similar to those following dorsal column lesions. Responses of spindle primary afferents are depressed during the initial stages after acute pyramidotomy, then approach but do not reach normal levels. It is concluded that the dorsal columns constitute an afferent, and the pyramidal tracts an efferent, pathway important in oriented contactual reactions of the limbs. The hypotonia resulting from cerebellar lesions, precentral ablation, and pyramidal tract section stems, at least in part, from a depression of the fusimotor innervation of muscle spindle afferent activity.
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PMID:Primate models of postural disorders. 105 89

Recurrent inhibition was studied by antidromic stimulation of Renshaw's cells. 25 normal subjects and 74 patients with CNS lesions accompanied by movement disturbances were examined. During weak voluntary contraction of the soleus muscle, the stimuli were applied to motor fibers of the n. tibialis (weak M-response was evoked). In normal subjects, the stimulation was followed by short-latency suppression of the EMG background activity of the muscle brought about by recurrent inhibition. The same inhibition was revealed in patients with spastic paresis caused by pyramidal system lesion. However, the stimulation failed to evoke the recurrent inhibition in patients with movement disturbances caused by brain stem and cerebellum lesions, including patients with hypotonia.
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PMID:[Recurrent inhibition in patients with lesions of the central nervous system]. 263 73

The authors describe a case of botulism in a 3-month-old infant infected with Clostridium botulinum type A. Symptomatology developed within four days, persisted for two weeks, then regressed. Symptoms were paresis of face muscles, hyporeactive pupils, loss of succion and deglutition, axial hypotonia, weakness of peripheral muscles, lability of the autonomic nervous system with acute episodes of bradycardia and constipation. Anomalies of the electroen-cephalogram and of the auditory evoked responses suggest that the toxin penetrated the central nervous system. Treatment was symptomatic, without need for assisted ventilation. It was not possible to detect the source of infection.
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PMID:[Botulism in infancy]. 266 93

Clinical analysis of 378 acute cases of Malathion insecticide intoxication and pathological and histochemical investigation of skeletal muscles in 7 autopsied victims of acute poisoning have revealed the pronounced neuromuscular disorders. Generalized paresis and paralysis of muscles were observed in trunk and limbs. Muscular fasciculation, hypotonia and hyporeflexia were also generalized. Multiple foci of muscular fibers necrosis and necrobiosis were found with intermuscular nerves and motor endings degenerated, neuromuscular junctions cholinesterase sharply inactivated.
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PMID:[Clinico-morphologic and histochemical changes in the neuromuscular apparatus in acute carbophos poisoning]. 318 79

A 3-year-old boy was referred for evaluation of psychomotor retardation. He had a waddling gait with proximal hypotonia and paresis. Computed tomography (CT scan) and magnetic resonance imaging (MRI) of the brain demonstrated symmetrical lesions in the basal ganglia suggesting bilateral necrosis. Lactate and pyruvate levels in blood and cerebrospinal fluid were persistently elevated. A biopsy of the quadriceps muscle showed normal light microscopic findings except for a slightly raised number of lipid droplets. Electron microscopy confirmed this and also showed a rather large number of subsarcolemmal mitochondria without crystalline inclusions. Biochemical studies showed a normal carnitine level and normal mitochondrial enzyme activities in muscle homogenate, including succinate-cytochrome c reductase. However, intact isolated mitochondria failed to oxidize succinate. An explanation for this paradoxical finding is a deficiency in that part of the coenzyme Q (CoQ) that is reduced by the succinate dehydrogenase complex. The differential diagnosis between Leigh's syndrome and infantile bilateral striatal necrosis (IBSN) is discussed. The role of neuroradiology in prompting complementary investigations is stressed.
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PMID:Defect in succinate oxidation by isolated muscle mitochondria in a patient with symmetrical lesions in the basal ganglia. 337 46

Various degrees of persistent or paroxysmal paresis involving only the hindlimbs or all four limbs were observed in 3 dogs with hypothyroidism and lymphocytic thyroiditis. Clinical features included lethargy, obesity, alopecia, insidious and progressive paresis, hypotonia, and slow segmental reflexes in 2 dogs. Obesity, alopecia, paroxysmal paresis, and behavior change were observed in the third dog. Laboratory tests indicated that thyroid function was less than normal in all 3 dogs. Abnormal electromyographic potentials and slow motor nerve conduction velocities were found in each dog. Muscle biopsy specimen abnormalities included selective type-II myofiber atrophy in all dogs, whereas one dog had angular atrophy of type-I and type-II myofibers indicative of denervation. A substance that stained with para-aminosalicylic acid was observed within vacuoles of type-I myofibers in one dog. Lymphocytic thyroiditis characterized by lymphocytic infiltration of excised thyroid glands was observed in all dogs.
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PMID:Neuromuscular abnormalities associated with hypothyroidism and lymphocytic thyroiditis in three dogs. 355 92

Clinical studies of 378 patients with acute carbophose poisoning were carried out, as well as histological studies of striated muscles (gastrocnemius, anterior tibial, intercostal and phrenic) from 7 poisoned with lethal outcome due to acute oral intake of carbophose (malation). Besides, deltoid muscles (biopsy samples) of 2 severely poisoned with carbophose patients were studied histologically. Generalized paresis and paralysis of muscles of the body and the extremities, fasciculations, muscular hypotonia were found. Histologic studies revealed extensive vascular lesions, marked necrotic and necrobiotic changes in sceletal muscles and degenerative changes in the intermuscular nerve Fibers and motor endings.
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PMID:[Histopathology of the skeletal musculature in acute peroral carbophos poisoning]. 360 18

Five male infants, all of whom showed findings of wave I or waves I and II only of the auditory brain stem response (ABR), congenital horizontal pendular nystagmus, and hypotonia of head and limbs in the early infantile period with later paresis, are discussed. Their ages ranged from 3 to 13 months at the first examination, at which time neither head control, sitting, nor walking had been attained. Follow-up studies of ABRs revealed persistent abnormalities with neither remission nor progression. In spite of these abnormalities, these infants responded well to voices and other sounds. The congenital nystagmus in each case was demonstrated by electronystagmography to have a frequency of 2 to 3 Hz. The correlation between clinical signs and ABR is uncertain as yet. However, our findings are strongly indicative of nonprogressive inborn abnormalities in the lower brain stem.
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PMID:Absence of later auditory brain stem response components, congenital horizontal nystagmus, and hypotonia in male infants. 396 94

During the 3 weeks of his life, an infant born at term presented pronounced hypotonia, areflexia and generalized paresis with severe respiratory and feeding problems. He was the fourth male in two generations to die in the perinatal period, therefore suggesting an X-linked inheritance. Post-mortem examination revealed a centronuclear or myotubular myopathy. The difficulty in distinguishing the signs due to muscle disorder from those due to hypoxaemic encephalopathy is stressed. Infants with centronuclear myopathy have in any case a high risk for hypoxaemic encephalopathy. The literature concerning neonatal centronuclear myopathy with X-linked inheritance is reviewed.
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PMID:Neonatal myotubular myopathy with a probable X-linked inheritance: observations on a new family with a review of the literature. 651 77


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