Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Correlation of 18 histologic variables with age and sex of 24 patients with motor neuron disease (MND), and the duration, severity, and activity of their disease, showed that high density of atrophic fibers correlated with degree of muscle weakness and the worst prognosis and that type I grouping correlated with the best prognosis. Although both type I and type II fibers are involved in the majority of patients with MND, the data suggest that involvement of type I fibers is more important in relation to activity of the disease.
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PMID:Histologic findings in motor neuron disease. Relation to clinically determined activity, duration, and severity of disease. 47 19

The case histories of 70 patients with typical motor neuron disease (MND) have been analysed to ascertain the natural history of the disease in Australia. The place of birth and residence during life of each patient has been sought to determine whether there is any 'clustering' of patients in the State of New South Wales. The mean age of onset was 55 years and mean duration of life from onset was 3 years 5 months. These figures are comparable with those from the USA and UK and Japan although the onset in Australia was later and the duration longer. The case history of 1 patient who is still living 38 years after the onset of the disease is described as there is no longer survival time recorded in the literature to our knowledge. Attention is drawn to muscle aches and cramps mentioned spontaneously by 27 of the 70 patients. These symptoms occurred at the onset of MND and often correlated with the site of onset of weakness. Weight loss averaged 1.6lb (0.7kg) per month in those patients in whom weight was recorded. The CSF protein was greater than 45mg/100ml, ranging up to 110mg/100ml, in 9 of 37 patients. The place of residence of patients bore no relation to known areas of increased manganese in the soil, and there was no evidence of 'clustering' of cases.
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PMID:Motor neuron disease in Australia (State of New South Wales). 61 8

The patient described is a 14-year-old girl who suffered from an oculocutaneous albinism. The developmental milestones were reached with some delay. Gradually she experienced fatiques, and wasting of the pelvic girdle muscles and weakness appeared. In suralis nerve biopsy sections no abnormalities were found. In muscle biopsy sections the characteristic findings of a primary central neuronal muscular atrophy were seen. Based on clinical and histopathological findings it may be stated that the patient is suffering from a motor neuron disease. The chance of the combined occurrence of oculocutaneous albinism and motor neuron disease can be estimated to be one out of 750 X 10(6), unless an incestuous relation is supposed.
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PMID:Oculocutaneous albinism associated with motor neuron disease. 63 11

A clinical and genetic study of spinal muscular atrophy (SMA) of adult onset is reported. A genetic analysis of all cases of SMA occurring over a ten-year period in North-east England (48 index cases) has shown that chronic proximal SMA of adult onset is a distinct clinical and genetic entity, and is not a variant of the more common and relatively benign late juvenile cases. Nine cases of SMA of adult onset have been studied, occurring in 6 families. The median age of clinical onset was 35 years and the mean age at initial medical presentation was 37 years. The sex ratio was 5:4 (males:females). The condition is relatively benign and there is no evidence to date that life expectancy is shortened; there is usually no premonitory evidence of muscular weakness in early adult life. The muscular involvement is relatively symmetrical and the distal musculature is well preserved; clinical progression of the disease is interrupted by periods of apparent arrest. No patient was able to walk completely unaided twenty years after the initial clinical onset; the median age of patients in the study was 61 years but only one was confined to a wheelchair. In the early stages the recessive form of familial motor neuron disease must be excluded. A segregation analysis of sibs born after index cases was undertaken (segregation ratio of 0.20). This finding is consistent with autosomal recessive inheritance with an extended period during which the disease might initially present. The presence of new dominant mutations cannot be excluded, but is unlikely to account for more than 10% of cases. The carrier rate in the English population is estimated to be 1 in 300, with a gene frequency q = 0.00165. Prevalence is 0.32 per 100,000 in the general population. Empirical risks for genetic counselling are presented.
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PMID:A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity. 73 22

A case of familial progressive bulbar and spinal muscular atrophy was presented. The patient was a 59-year-old male with chief complaints of gait disturbance and nasal voice. His illness started at the age of 39 and very slowly progressed over 20 years. The clinical symptoms and signs were characterized by muscle weakness and atrophy due to lower motor neuron disease in the brain stem below the lower pons and the spinal cord. The electromyograms and muscle biopsy findings are basically neurogenic. In spite of the bulbar signs, the course of the disease is extremely slow. The diagnostic criteria was proposed after reviewing eight other cases reported in the literature.
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PMID:Familial progressive bulbar-spinal muscular atrophy: case report with muscle biopsy study. 90 39

A study of chronic proximal spinal muscular atrophy was undertaken with the main aim of obtaining empirical recurrence risks for genetic counselling. Thirty-eight patients and their families were studied. Of these, 33 had similar clinical features and onset of disease in infancy or childhood. A division of these 33 patients by onset before or after 2 years (which was equivalent to whether or not they ever walked normally) gave recurrence risks for sibs which were higher with early onset. Among the sibs of patients with onset before 2 years, the incidence of disease was 1 in 5, due to most patients having an autosomal recessive disorder. A few patients, however, were thought to represent new dominant mutations. Among the families of index patients with onset after 2 years, the incidence of disease in sibs was only 1 in 15, but among their children it as 1 in 8. Both autosomal recessive and autosomal dominant forms therefore occurred in this age group, but it was concluded that nearly half the patients with onset after 2 had non-genetic motor neuron disease. The autosomal recessive form of chronic spinal muscular atrophy generally had onset before 2 years, but occasionally after 2. About a third of the patients never walked, and about half were in wheelchairs by age 10. No genetic heterogeneity within this form was demonstrated. Three remaining patients had distinctive clinical features associated with their proximal weakness, external ophthalmoplegia in one, dysarthria in another, and joint contractures in a third. Only 2 patients had onset in adult life, one of a probable recessive disorder and the other a probable dominant disorder.
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PMID:A clinical and genetic study of chronic proximal spinal muscular atrophy. 118 87

We report on a family in which both Werdnig-Hoffmann disease (severe infantile-onset spinal muscular atrophy) and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig-Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.
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PMID:Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance. 141 12

X-linked spinal and bulbar muscular atrophy (SBMA), a motor neuron disease associated with androgen insensitivity, is caused by androgen receptor gene mutations with an increased number of tandem CAG repeats in exon 1. We investigated the increased number of CAG repeats in androgen receptor genes of 19 SBMA patients and found that this correlated strongly with the age at onset of muscle weakness. Thus, SBMA is the first genetic disease in which a strong correlation between the degree of genetic abnormality (number of CAG tandem repeats) and clinical phenotypic expression is demonstrable. The results further indicate that androgen gene mutation is directly involved in the degeneration of motor neurons.
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PMID:Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. 146 83

Positron emission tomography with fluorodeoxyglucose F 18 (18F-fluorodeoxyglucose) was used to examine regional cerebral glucose metabolism in individuals with motor neuron disease. Motor neuron disease involves selective loss of motor neurons, large pyramidal cells in the motor cortex, and corticospinal tract degeneration. We postulated that the local cerebral metabolic rate of glucose should correlate with this regional neuronal cell loss. Glucose metabolism values in patients with motor neuron disease were reduced compared with those of controls in several regions; however, when corrected for multiple comparisons, no significant difference was observed between patients with motor neuron disease and age-matched controls. No correlation was noted between the local cerebral metabolic rate of glucose and duration or severity of illness. Correlation between metabolic changes with objective findings on neurologic examination, including motor weakness and tendon reflexes, provided interesting results, including a decline in glucose metabolism with progressive weakness and upper motor neuron dysfunction. Moreover, in supplementary motor areas, there appears to be an increase in regional glucose metabolism as the neurologic condition deteriorates, possibly representing increased metabolic activity of the motor association cortex in response to primary loss of pyramidal cells.
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PMID:Cerebral glucose utilization in motor neuron disease. 152 17

A 51-year-old man developed muscle weakness of the bilateral upper extremities, and mental changes beginning with personality change. There was no history of mental illness in his family. A neurological examination 1 year after the onset revealed muscle atrophy and fasciculation of his bilateral upper extremities Neuropsychological examination revealed concrete speech, paraphasia, and lack of judgment. Disorientation, amnesia, dyscalculia, and spatial agnosia, however, were not recognized. These neuropsychological findings were compatible with dementia of frontal lobe type. EMG and muscle biopsy revealed neurogenic muscular atrophy. There was no abnormal findings in the brain X-CT and the brain MRI. PET study using C15O2 and 15O2 revealed reduction of cerebral blood flow (CBF) and cerebral metabolic rate of oxygen (CMRO2) in the bilateral medial frontal cortex, the left temporal cortex and the bilateral thalamus. From these these findings the patient was diagnosed as having motor neuron disease with dementia. Muscle atrophy and dementia worsened gradually. A second PET study 2 years and 6 months after the onset revealed severe reduction of CBF and CMRO2 in the bilateral temporal cortex and the thalamus. These PET findings suggested that dysfunction of the temporal cortex and the thalamus related to dementia in this case.
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PMID:[A case of motor neuron disease with dementia--cerebral blood flow and cerebral oxygen metabolism]. 162 37


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