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)

Theories on "Coping" try to explain which resources people use to master crises and conflict situations. Reactions to challenges of life are considered as "coping strategies". In psychosomatic research, the notion of "coping" serves to describe how patients can handle physical or mental illness. Myatrophic (or amyothrophic) lateral sclerosis (ALS) is a rare chronic progressive disease of the nervous system with a gradual loss of motor neurons, resulting in muscular atrophy, weakness and spasticity. Since the etiology is unknown and no curative treatment available, most patients die from respiratory failure within a few years. In a follow-up study on physical disability, medical care and social support in 21 patients with advanced ALS, we tried to address the question how patients get along with such a threatening condition. After semi-standardized clinical interviews with patients and close relatives, two investigators gave independent descriptions of reported or observed "coping strategies" (rated as "not at all-barely-possibly-probably-very probably present"). Considering 17 patients assessed by both raters, significant agreement (Kendall's W) was achieved in three patients only. A comparison of aggregated answers (chi 2-Test) revealed different response sets, since one rater tended to choose extreme scale points, while the other preferred undecided answers. Differences of mean scores were observed in 8 out of 21 items, while significant correlations between investigators were obtained in another 8, including, though, only 2 of those 5 items which both had rated as "probably present" in no less than 50% of the patient sample ("Dejection & Flight-Brooding-Keeping the Situation Open-Distraction-Self-Isolation").(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Assessment of "coping with disease" in patients with amyotrophic lateral sclerosis (ALS): on the use of an interviewer assessment rating scale]. 223 71

The clinical and pathological features, including electron microscopy of a sporadic case of neuroaxonal dystrophy with findings of both Hallervorden-Spatz syndrome (HS) and Seitelberger's disease (SD) are presented. The patient presented with a slowly progressive illness with seizures, extrapyramidal symptoms, cerebellar ataxia, dementia, spasticity, myoclonic movements and a severe demyelinating peripheral neuropathy with secondary muscular atrophy. Neuropathological examination disclosed cerebral and cerebellar atrophy and excessive pigmentation of the globus pallidus and substantia nigra. Spheroids were widely distributed within the central and peripheral nervous system. Numerous neurofibrillary tangles (NFTs) were found within the hippocampal cortex, neocortex and brain stem. Extensive granulovacuolar degeneration (GVD), Hirano bodies and Lewy bodies were also demonstrated. Severe loss of myelin from the peripheral nerves and muscular denervation were striking features. We wish to report this case which shares findings of both entities, HSS and SD.
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PMID:Adult onset Hallervorden-Spatz syndrome or Seitelberger's disease with late onset: variants of the same entity? A clinico-pathological study. 236 93

Familial spastic paraparesis with amyotrophy of the hands was reported, and its significance in the literature was reviewed. Case 1: An 18 year-old boy, who had been suffering from spastic gait since 12 years old, noticed his hand muscle wasting distributed bilateral first interosseous muscle, thenar and hypothenar muscle at age 17. Case 2: A 20 year-old man, elder brother of case 1, who also walked in spastic manner from his childhood, developed bilateral hand muscle atrophy similar to case 1 at age 19. Clinical features of these two cases could be summarized as familial spastic paraparesis with amyotrophy characterized by hand muscle atrophy, spasticity of lower extremities with hyperreflexia and bilateral positive pathological reflexes and spastic gait. Their younger sister was also examined, who showed only minimal spastic paraparesis. The electrophysiological examination including EMG and SEP suggested the pathological process could involve not only lateral column, but also posterior column and anterior horn. Slight but generalized spinal cord atrophy was demonstrated on metrizamide CT myelography. The muscle biopsy performed from left gastrocnemius in case 2, confirmed neurogenic changes. Although the association of retinal degeneration, cataracta, mental retardation, pes cavus or even generalized amyotrophy has been reported in familial spastic paraparesis, only limited cases are available, dealing with the amyotrophy of limbs. As far the cases with amyotrophy localized to the hands are concerned, it is absolutely rare and only the cases reported by Silver could be regarded as similar or same clinical entities to our cases.
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PMID:[Two cases of familial spastic paraparesis with amyotrophy of the hands]. 267 23

The patient, a 31-year-old married woman, noticed spasticity on walking at the age of 19 accompanied by ataxia, dysarthria and dysphagia. Facial twitching and dystonic movement of extremities have been observed since age 27. A sister of her father showed the similar ataxia and dysarthria, and expired of pneumonia at the age of 45. On admission at the age of 29, neurological examinations revealed nystagmus, marked spasticity with pathological reflexes and clonus, cerebellar ataxia, dysarthria and dysphagia, diffuse muscle wasting, fasciculation in facial musculature, and generalized slow dystonic movement. By neuro-otological studies bilateral MLF syndrome with upward gaze limitation and decreased velocity of saccadic eye movement were detected. Surface EMG at rest showed a dystonic discharges on the extremities. Needle EMG disclosed a systemic neurogenic change with reduced interference and high amplitude potentials. Atrophy of the brainstem was remarkable on the cranial CT and MRI. These abnormal eye movements, especially bilateral MLF syndrome and generalized dystonia seem to be quite unusual in the variety of spinocerebellar degenerations. On reviewing detected clinical descriptions on Joseph disease this case can be probably included.
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PMID:[A case of spinocerebellar degeneration with bilateral MLF syndrome and dystonia]. 274 81

Nine patients (7 with amyotrophic lateral sclerosis, 1 with progressive spinal amyotrophy and 1 with chronic anterior poliomyelitis) were treated by sequential intravenous administration of 240 mg of TRH over one hour every two weeks. Results were assessed by an analytical evaluation of muscle strength before and 24 h after each infusion and by objective and subjective evaluation of spasticity. Significant improvement, as shown by statistical analysis, was noted in muscle strength in the 9 patients by 5 infusions over a 4-week period and a sub-group of 5 patients treated by 8 infusions over 10 weeks. Continued use of this therapy is justified by the need to determine its long-term effects and the psychological improvement noted in some patients after an even transient improvement in motor performance. However this treatment is obviously not curative.
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PMID:[Treatment of amyotrophic lateral sclerosis with thyrotropin releasing hormone]. 308

We studied three patients from two unrelated families with adult hexosaminidase A deficiency. A 30-year-old, non-Jewish proband in the first family had juvenile amyotrophic lateral sclerosis that evolved to mild dementia, ataxia, and axonal (neuronal) motor-sensory peripheral neuropathy. A 36-year-old Jewish proband in the second family had "pure" spinal muscular atrophy. One supposedly healthy brother of the first proband was found to have borderline IQ, mild spasticity, and ataxia but no evidence of motor neuron disease. Marked cerebellar atrophy was detected by head scans in all three patients. In both probands electromyograms were characterized by prominent, complex repetitive discharges in many muscles. Hexosaminidase A activities against the artificial substrate were similar to those reported in infantile Tay-Sachs disease; however, the hexosaminidase A level against GM2 substrates was higher than that found in infantile Tay-Sachs disease. The hexosaminidase A levels of the parents were in the heterozygous range. Motor neuron disease in our patients and in those previously described appears to be part of a multisystem degeneration of the nervous system.
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PMID:Motor neuron disease and adult hexosaminidase A deficiency in two families: evidence for multisystem degeneration. 315 34

Although it was first described over a century ago (by Charcot in 1865; by Erb in 1875), the concept of primary lateral sclerosis (PLS) is still not universally accepted. Despite this skepticism, several well-documented cases of isolated degeneration with varying degrees of involvement of corticospinal pyramidal pathways have been reported in the literature. The clinical manifestations in these cases can take one of two forms, ie, isolated spasmodic paraplegia or tetraplegia on the one hand or spasmodic tetraplegia associated with a pseudobulbar syndrome featuring severe spastic dysarthria (chronic progressive bilateral spinobulbar spasticity) on the other hand. Obviously, without firm pathologic data, PLS is a hazardous diagnosis for isolated paraplegia or tetraplegia. Conversely, for bilateral spinobulbar spasticity, it would appear to be the only diagnosis possible once investigate findings have eliminated the other possibilities, such as a pyramidal form of amyotrophic lateral sclerosis or a spinal form of multiple sclerosis. To underscore this point, in this report, five cases of chronic progressive bilateral spinobulbar spasticity developed over 5, 10, 12, 10, and 28 years, respectively, for which the only possible diagnosis was PLS. It was concluded that there are three forms of degenerative diseases of the principal motor pathways: one involving both central and peripheral neurons, ie, amyotrophic lateral sclerosis; one involving only peripheral neurons, ie, spinal amyotrophy; and one involving only central motor neurons, ie, PLS.
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PMID:Chronic progressive spinobulbar spasticity. A rare form of primary lateral sclerosis. 335 2

The authors report the case of a 12 year-old child who presented with a syndrome, isolated in Quebec, including spasticity, ataxia, distal muscle wasting, pes cavus, retinal striation, and the frequent presence of a prolapse of the mitral valve. This autosomal recessive disease is similar to Friedreich disease.
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PMID:[Recessive autosomal spastic ataxia]. 662 48

To study gene loci and disease phenotypes, 18 families with dominant OPCA were subjected for linkage analysis to SCA1- or SCA2-linked microsatellites. Total individuals consisted of 190. Among them, 77 were affected. Consequently, 10 families were 6p-linked, 7 were 12q-linked, and one was type-undetermined. These results indicate that the majority of dominant OPCA in Japan are composed with these two genotypes. Clinically, these two disorders show progressive ataxia, Babinski reflexes, and terminal amyotrophy. Other common features in SCA1 were hyperreflexia, spasticity, mild nystagmus at early stage, slow saccade, and external ophthalmoparesis (EOP) at advanced stage. In contrast SCA2 showed progressive hyporeflexia and slow saccade from early stage. Moreover, choreiform movement, tremor, and rhythmic myoclonus were more frequent in the latter. Neuropathologically, dentate nucleus, brainstem motor nuclei, spinocerebellar tract were involved more severely in SCA1 than SCA2. Degeneration of substantia nigra is more marked in SCA2 than SCA1. These observations strongly indicate that there are correlations between genotypes and phenotypes in dominant OPCAs. Conversely, it is possible to diagnose these two genetic disorders from the clinico-pathological findings.
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PMID:[Linkage study of hereditary spinocerebellar ataxia, and probable correlation for the loci to the disease phenotypes]. 817 26

The authors present the clinico-pathological findings in a member of a family residing in Akita Prefecture located in the north-eastern region of Japan. Four members in three generations of the family developed ataxia. The autopsied patient was a 42-year-old woman, who, at the age of 25, had developed progressive cerebellar ataxia with pyramidal spasticity and increased deep tendon reflexes predominant in the lower extremities. However, she retained fine movement of the hands and fingers and showed no dysarthria until the age of 35. She could no longer walk unassisted at 38 years old. She showed cerebellar ataxia in both hands and legs, dysarthria, bulging eyes, progressive extraoculomotor palsy with nystagmus, bradykinesia, sensory disturbance, and dystonia in the face, upper extremities, and fingers. Deep tendon reflexes were decreased, especially in the lower extremities. Subacute generalized muscular atrophy developed at the age of 39. She became bedridden and died of pneumonia. The clinical diagnosis was Type-2 of the entity known in Japan as Machado-Joseph disease. At neuropathological examination, the brain weight was 1,250 g. The spinocerebellar system including Clarke's column and the spinocerebellar tracts were degenerated, but the cerebellar cortex and inferior olivary nucleus were spared. Slight-to-moderate degeneration was observed in the pontocerebellar system. In the dentate nucleus, most of the neurons showed what is known in Japan as "grumose degeneration", but there was no neuronal loss or gliosis. The hilus of the dentate nucleus and the superior cerebellar peduncle were intact.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsied case of type 2 Machado-Joseph's disease or spino-pontine degeneration]. 821 97


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