Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The bulbocavernosus reflex was investigated electrophysiologically in 14 normal adult male subjects and in 80 patients with neurogenic bladders and/or impotence due to various neurological causes as well as in patients with functional impotence. The glans penis was stimulated superficially by single electrical shocks and the reflex responses were recorded from the bulbocavernosus (BC) and the striated anal sphincter muscles by means of concentric needle EMG electrodes. In all normal subjects, the BC reflex was recorded from the BC muscle as a stable and constant response having a mean latency of 36.1 msec. A response from the external anal sphincter was obtained in only 21% of the subjects investigated. In 13 patients with cauda equina lesions, the BC reflex was either absent or was present with a prolonged latency. Twenty-two patients with polyneuropathy of various causes were also investigated; in these patients the latency of the BC reflex was significantly greater than in the normal controls, but the most abnormal results were obtained in cases of alcoholic polyneuropathy. In the 19 cases of spinal cord disease with spasticity the BC reflex response was very intense, often with after discharges but latency values were within normal limits. In the 16 cases with functional impotence, the BC reflexes were basically normal; but in 3 cases, the threshold of the reflex was significantly raised, and in 1 case a prolonged latency was observed. The value and the practical application of the BC reflex in the BC reflex in the differential diagnosis of bladder dysfunction and of impotence was stressed.
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PMID:Bulbocavernosus reflex in normal men and in patients with neurogenic bladder and/or impotence. 18 Feb 61

Of 23 children with hereditary spastic paraplegia (HSP), spasticity was the only neurological abnormality in eight patients (pure form). Additional neurological abnormalities in the 15 with complicated HSP included cognitive impairment, pseudo-bulbar palsy, cerebellar dysfunction and polyneuropathy. 19 children presented with abnormal gait, recognised at a mean age of three years in the pure form and five years in the complicated form. These forms were distinguished at a mean age of 11 years. Early non-motor developmental delay or rapidly ascending paraparesis, with spread of spasticity to the arms and with involvement of bulbar structures, predicted development of the complicated form. The pure form was inherited in an autosomal dominant manner in five patients. The autosomal recessive form was commonly associated with additional neurological abnormalities and a more rapid rate of progression.
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PMID:'Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. 204 52

The prognosis of hexacarbon induced polyneuropathy is usually good, though its clinical course after the cessation of exposure has not been described in detail. Eleven patients with moderate to severe n-hexane induced polyneuropathy due to occupational exposure were regularly followed up for a period of four years at the neurological department of the National Taiwan University Hospital. Sensorimotor neuropathy was diagnosed in nine patients and motor neuropathy in two. All were removed from further exposure to n-hexane after aetiological confirmation, but motor disturbance continued to worsen in five cases. Sensory functions were regained earlier than motor functions. All the patients, including one who was tetraplegic and confined to a wheelchair in the early stages, regained their full motor capabilities within one to four years. Three patients with severe neuropathy had residual muscle atrophy in the intrinsic foot and hand muscles. Signs of damage to the central nervous system, including increased tendon reflexes in two patients and leg tightness in six patients, emerged as muscle power was nearing complete recovery. The tightness of the legs gradually disappeared, but muscle cramps of the calves developed and these were still present at the end of follow up. Two patients had mild abnormal colour vision, and the abnormality was still detectable four years later. It is concluded that n-hexane induced neuropathy has a good prognosis, and that spasticity due to damage to the central nervous system is functionally reversible; muscle cramps and dyschromatopsia persist much longer.
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PMID:Patients with n-hexane induced polyneuropathy: a clinical follow up. 216 55

We have examined 138 cases of a disorder previously described in people of Portuguese origin and which has received many names. By computer analysis of 46 different items of a standardized neurological examination carried out in each patient, we have been able to delineate the main components of the clinical presentation, to conclude that the marked variability in clinical expressions does not negate the homogeneity of the disorder, and to describe the natural history of this entity which should be called, for historical reasons, "Machado-Joseph Disease". This hereditary disease has an autosomal dominant pattern of inheritance, presenting as a progressive ataxia with external ophthalmoplegia, and should be classified within the group of "Ataxic multisystem degenerations". When the disease starts before the age of 20, it may present with marked spasticity, of a non progressive nature but often so severe that it can be accompanied by "Gegenhalten" countermovements and dystonic postures but little frank dystonia. There are few true extrapyramidal symptoms except akinesia. When the disease starts after the age of 50, the clinical spectrum is mostly that of an amyotrophic polyneuropathy with fasciculations accompanying the ataxia. For all the other cases the clinical picture is a continuum between these two extremes, the main determinant of the clinical phenotype being the age of onset and a secondary factor, the place of origin of the given kindred. The ataxic and amyotrophic components are clearly progressive with time in contrast to the spasticity component. Although the majority of known cases are of Portuguese origin, this is not obligatory. The next research endeavour should be a search for the chromosomal site of the gene, using molecular biology technology such as those for recombinant DNA.
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PMID:The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases. 650 98

Cases of polyneuropathy due to exposure to industrial solvents have been studied at several shoe factories in the province of Siena. After the screening of 654 employees 98 verified cases were detected. Of these, 16 were rated as moderate to severe, 45 as mild, and 37 were minimally involved but with characteristic electrodiagnostic abnormalities. Follow-up study in 53 patients showed that neurological signs and symptoms as well as electrodiagnostic abnormalities continued for years in several patients. In addition, after a year's observation, some patients showed signs of central nervous system dysfunction such as spasticity of the lower limbs and increased deep tendon reflexes. High percentages of commercial n-hexane were found in all the samples of glues and solvents collected from home-workers and from factories where cases of polyneuropathy occurred.
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PMID:Toxic polyneuropathy of shoe workers in Italy. A clinical, neurophysiological and follow-up study. 667 48

We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. Neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. Galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.
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PMID:Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up. 775 15

Adrenomyeloneuropathy (AMN) is one of the most frequent phenotypes of X-linked adrenoleukodystrophy. Whether the polyneuropathy in AMN results from primary demyelination or axonal degeneration is uncertain. We examined 23 patients (18 men with AMN and five female carrier with AMN symptomatology), performed electroneurography and EMG, and compared our results with standardized electrodiagnostic criteria for primary demyelination. Both clinically and electrodiagnostically, the lower extremities were most frequently and most severely affected. A longer duration of symptoms was related to more severe pyramidal dysfunction (p < 0.004) and spasticity (p < 0.04), and to a more severe impairment of vibration sense (p < 0.05). There were on correlations between the different electrophysiologic studies and the duration of neurologic symptoms. Only two AMN patients (9%) fulfilled the electrodiagnostic criteria for primary demyelination. However, both had abnormally low compound muscle action potentials, which may have been a reflection of primary axonal degeneration. Six other patients (26%) partially fulfilled the criteria for primary demyelination, of whom five also manifested low compound muscle action potentials. In 15 patients (65%), we found polyneuropathy with predominantly axonal, sensorimotor features. We conclude that the neuropathy in AMN patients is due to primary axonal degeneration.
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PMID:Peripheral nerve abnormalities in adrenomyeloneuropathy: a clinical and electrodiagnostic study. 855 56

Lower extremity symptoms are caused by lesions at any level of the neuraxis, from cortex to muscle. HIV affects virtually every level of the nervous system, either directly or indirectly. The presence of pathology at multiple levels and by multiple processes further complicates the bedside diagnosis of a patient with AIDS and neurologic symptoms. Many neuropathies and other conditions that affect the lower extremities can be identified with careful history and physical examination, confirmed with limited testing, and can be treated successfully. Distal symmetric polyneuropathy is the most common lower extremity disorder, but it must be distinguished from similar-appearing neuropathies caused by medications, B12 deficiency, or vasculitis. Diffuse infiltrative lymphocytosis syndrome also causes a painful peripheral neuropathy that must be distinguished from distal symmetric polyneuropathy. Inflammatory demyelinating polyneuropathies are characterized by muscle weakness. They occur in early, asymptomatic HIV infection and respond to plasmapheresis or steroids. Mononeuropathies in patients with CD4 counts more than 200 often resolve on their own. Multiple mononeuropathies, which occur in patients with CD4 counts less than 50, are often associated with cytomegalovirus infection and may follow a rapidly progressive course unless treated promptly and aggressively. Progressive polyradiculopathy occurs late in the course of AIDS, is often caused by cytomegalovirus, is rapidly progressive, and generally is fatal unless recognized and treated promptly. Muscle weakness, myalgia, and fatigue are common in HIV and have multiple causes. Lower extremity spasticity may be caused by treatable etiologies such as spinal cord abscess, tumor, disc compression, B12 deficiency, or ischemia. Gait disturbances are common but nonspecific and may be caused by treatable neurologic disorders at any level of the neuraxis.
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PMID:Neurologic problems of the lower extremity associated with HIV and AIDS. 957 54

We measured central and peripheral motor conduction time to demonstrate lesions in the upper and lower motor neurons of 11 chronic alcoholics with polyneuropathy without spasticity, 7 chronic alcoholics with spasticity with and without alcoholic polyneuropathy, and 16 healthy volunteers as controls. Peripheral motor conduction time was significantly prolonged in all extremities in all of the chronic alcoholics, and was accompanied by a considerable reduction in motor conduction velocity. Central motor conduction time was considerably prolonged in the lower extremities of the alcoholics with spasticity compared with both the controls and the alcoholics without spasticity. Central motor conduction time in the patients with alcoholic polyneuropathy without spasticity was slightly prolonged in comparison with the controls, but not significantly. Based on the electrophysiological findings, we conclude that peripheral neuropathy is a lesion common to chronic alcoholics whether or not they have clinically evident polyneuropathy. Chronic alcoholics with spasticity have significantly longer central motor conduction time in the lower extremities. Spasticity in chronic alcoholics develops not independently but concomitantly with peripheral neuropathy, suggesting that peripheral neuropathy develops earlier than spasticity.
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PMID:Central and peripheral motor conduction time in chronic alcoholics with polyneuropathy and/or spasticity. 1032 27

Late-onset Tay-Sachs (LOTS) disease is a chronic, progressive, lysosomal storage disorder caused by a partial deficiency of beta-hexosaminidase A (HEXA) activity. Deficient levels of HEXA result in the intracellular accumulation of GM2-ganglioside, resulting in toxicity to nerve cells. Clinical manifestations primarily involve the central nervous system (CNS) and lower motor neurons, and include ataxia, weakness, spasticity, dysarthria, dysphagia, dystonia, seizures, psychosis, mania, depression, and cognitive decline. The prevalence of peripheral nervous system (PNS) involvement in LOTS has not been well documented, but it has traditionally been thought to be very low. We examined a cohort of 30 patients with LOTS who underwent clinical and electrophysiologic examination, and found evidence of a predominantly axon loss polyneuropathy affecting distal nerve segments in the lower and upper extremities in eight patients (27%).
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PMID:Late-onset Tay-Sachs disease: the spectrum of peripheral neuropathy in 30 affected patients. 1864 77


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