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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a longitudinal investigation of 14 patients with motor neuron disease motor units were studied in the biceps and first dorsal interosseous muscles in both arms, using single fibre EMG. The fibre density usually increased initially and this was occasionally accompanied by temporary improvement in strength. Later, as the fibre density decreased, increasing weakness and atrophy developed. The fibre density was rarely as high at any stage of the disease as in other chronic neurogenic disorders. Marked asymmetry was observed in individual patients at all stages of the disease.
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PMID:A longitudinal study of changes in motor units in motor neuron disease. 629 55

In the two cases reported here, acute respiratory failure developed as a manifestation of motor neuron disease (amyotrophic lateral sclerosis). Both patients complained of systemic weakness before respiratory failure occurred. In one patient, respiratory support could not be discontinued because of poor inspiratory and expiratory pressure. Although acute respiratory failure is an uncommon manifestation of motor neuron disease, we believe this disorder should be considered in patients with unexplained respiratory failure and in those who cannot be weaned from a respirator for mechanical reasons.
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PMID:Motor neuron disease presenting with respiratory failure. Report of two cases. 650 98

We evaluated 16 Guamanian Chamorros with amyotrophic lateral sclerosis and 33 patients with parkinsonism-dementia for disturbances of calcium and vitamin D metabolism. The serum immunoreactive parathyroid hormone level was mildly elevated in 6 patients with amyotrophic lateral sclerosis and in 5 patients with parkinsonism-dementia. There were significant positive correlations between serum immunoreactive parathyroid levels and duration of illness in male patients with motor neuron disease, but not in female patients or in patients with parkinsonism-dementia. Intestinal absorption of calcium, as assessed by serum and urinary activity of calcium 47 following oral administration, was decreased in 2 patients with amyotrophic lateral sclerosis and in 4 patients with parkinsonism-dementia, all of whom had low levels of serum 1,25-dihydroxyvitamin D. Reductions in cortical bone mass were striking in patients with motor neuron disease. A significant negative correlation was found between the percentage of cortical area of the second metacarpal bone and muscle atrophy and weakness, and significant positive correlations were found between degree of immobility and ratio of urinary hydroxyproline to creatinine in patients with amyotrophic lateral sclerosis and parkinsonism-dementia. In general, abnormalities in calcium metabolism were subtle. Thus, if the demonstrated deposition of metals, particularly calcium and aluminum, in central nervous system tissues of Guamanians with these two conditions is a cause of the diseases and of the early appearance of neurofibrillary tangles in neurons, the accumulation has apparently occurred long before onset of symptoms, and detectable abnormalities of calcium and vitamin D metabolism may already have been corrected.
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PMID:Calcium and vitamin D metabolism in Guamanian Chamorros with amyotrophic lateral sclerosis and parkinsonism-dementia. 654 47

Two men and one woman with debrancher deficiency had symptoms and signs of neuromuscular disease. The two men had adult-onset and slowly progressive weakness, distal muscle wasting, "mixed" electromyographic patterns, and slow nerve conduction velocities; the initial diagnosis was Charcot-Marie-Tooth disease in one patient and motor neuron disease in the other. The woman had stunted growth, delayed motor milestones, and lifelong nonprogressive weakness. A muscle biopsy specimen showed severe vacuolar myopathy in all three cases. The glycogen concentration was increased threefold to sixfold and had an abnormal iodine spectrum. Anaerobic glycolysis in vitro showed impaired use of endogenous and exogenous glycogen but normal use of hexose-phosphate glycolytic intermediates. These three cases illustrated the clinical variety of neuromuscular disease in debrancher deficiency. In patients with weakness of adult onset, the diagnosis is impossible to make without performing a muscle biopsy.
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PMID:Clinical varieties of neuromuscular disease in debrancher deficiency. 659 77

A patient with motor neuron disease is described. He had signs and laboratory data indicating generalized, symmetrical weakness, involving both inspiratory and expiratory muscle groups. The pattern of breathing involving recruitment of accessory muscles and expiratory contraction of abdominal muscles is similar to that seen in normal people at high minute ventilation, and suggests the compensating mechanism for increasing motor discharge to weak respiratory muscles is mediated centrally. Observation of this sort of respiratory activity gives a clinical clue to generalized respiratory muscle weakness.
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PMID:Pattern of breathing in a case of generalized respiratory muscle weakness. 664 14

Hereditary canine spinal muscular atrophy is a dominantly inherited lower motor neuron disease with three phenotypic variants: accelerated, intermediate, and chronic. Pups with the accelerated disease develop weakness by 1.5 months and are quadriparetic by 3 months. The motor neurons of selected brainstem nuclei and ventral horn of the spinal cord are characterized by chromatolysis and by neurofibrillary abnormalities in perikarya, dendrites, and, most strikingly, proximal axons. Dendrites and axons are segmentally enlarged by accumulations of maloriented fascicles of neurofilaments; the axonal swelling usually involve internodes and are delimited by the initial segment or nodes of Ranvier. The disorganized neurofilaments appear to entrap mitochondria and other particular organelles. We have hypothesized that the neurofibrillary changes in this genetic disorder in dogs is associated with an abnormality of the cytoskeletal constituents of motor neurons. Hereditary canine spinal muscular atrophy shows features in common with human motor neuron disease.
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PMID:Pathology of motor neurons in accelerated hereditary canine spinal muscular atrophy. 705 93

Ultrastructural and biochemical studies were performed on postmortem material of a 67-year-old woman presenting with proximal muscle weakness in the legs, slurred speech, and mental subnormality. The symptoms began at age 19 and showed extremely slow progression, mimicking progressive muscular dystrophy. A brother suffered from a similar chronic neuromuscular disease, and two sisters died at an early age from unknown "nervous" diseases. Autopsy disclosed abundant lipid accumulation in CNS neurons and severe cerebellar cortical atrophy of the granule cell type. Skeletal muscle showed a terminal stage of denervation atrophy with severe lipomatosis; intrafusal fibers of muscle spindles contained lipid deposits. Complex lamellar cytoplasmic inclusions often resembling membranous cytoplasmic bodies or stacked membranes were seen in cells of the brain. In addition, there were various lipopigment bodies, fingerprint profiles, rare polyglucosan bodies, rodlike structures, and filamentous sheaves, particularly in substantia nigra. Accumulation of gangliosides GM2 and GA2 in the cerebral cortex was demonstrated by thin-layer chromatography. Determination of hexosaminidase activity was not possible (formalin-fixed material). This observation, in addition to the cases reported by Navon et al. [1981] and Johnson [1982], is suggested to represent a new phenotype of adult-onset GM2 gangliosidosis referred to as motor neuron disease phenotype, which can be differentiated from other adult-onset lipidoses and motor neuron disorders. Our paper emphasizes the importance of ultrastructural demonstration of lamellar inclusions for the differential diagnosis of ceroid lipofuscinosis, and the value of biochemical studies in the diagnostic clarification of atypical neuromuscular disorders.
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PMID:Adult GM2 gangliosidosis masquerading as slowly progressive muscular atrophy: motor neuron disease phenotype. 716 18

The following report is a case of multifocal demyelinating motor neuropathy (MMN) presenting as a gradual development of asymmetric motor weakness without sensory involvement. Electrophysiological studies showed mainly a conduction block with normal or slightly slow nerve conduction velocity. Cerebrospinal fluid (CSF) protein and serum protein electrophoresis were normal, but serum IgM anti-GM1 ganglioside antibody was elevated. The patient had a poor response to steroid, plasmapheresis and chemotherapy with cyclophosphamide, but significant improvement was noted after intravenous immunoglobulin (IVIG) infusion. MMN is a potentially treatable condition which clinically mimics a motor neuron disease; if treatment with steroid, plasmapheresis and cyclophosphamide have failed, IVIG may be effective.
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PMID:Intravenous immunoglobulin infusion in multifocal demyelinating motor neuropathy: a case report. 755 14

Hereditary canine spinal muscular atrophy (HCSMA) is an autosomally dominant disease of motor neurons that shares many pathological features with human motor neuron disease. A particularly striking feature of the affected, accelerated phenotype (homozygous HCSMA) is that profound weakness develops before appreciable motor neuron cell death occurs (Cork et al., 1989a), implying that motor unit functional defects occur initially. The purpose of this study was to identify the site of these defects and characterize their nature. In most young homozygotes (2-3 months postnatal), motor neurons were encountered that could support orthodromic action potential propagation to the muscle but did not activate muscle fibers. The tetanic forces of innervated motor units in young homozygotes tended to be smaller than those in closely age-matched clinically normal animals. In older homozygotes (approximately 4.5 months, postnatal), all motor neurons sampled were capable of activating muscle fibers, but many motor units displayed abnormal behavior including an inability to sustain force output during high frequency activation. Motor units exhibiting tetanic failure also showed proportionately greater twitch potentiation than nonfailing units of similar unpotentiated twitch amplitude. Tetanic failure and large potentiation tended to occur in motor units that possessed the slowest contraction speeds. These results indicate that motor neuron functional defects in HCSMA appear initially in the most distal parts of the motor axon and involve defective neurotransmission. The possible roles of distal nerve degeneration, motor terminal sprouting, and synaptic transmission in causing these deficits are considered.
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PMID:Motor unit behavior in canine motor neuron disease. 775 23

Multifocal motor neuropathy, which mimics lower motor neuron disease, is a rare and curious demyelinating neuropathy characterised by slowly progressive, asymmetric limb weakness within the distribution of individual peripheral nerves, wasting, cramps, fasciculations and rare sensory involvement, but without upper motor neuron signs. The cardinal feature and primary pathophysiological basis for the weakness is the multifocal motor conduction block which remains stable for years at the same site and is confined to motor axons. It is defined as > 50% reduction in both the CMAP and the negative peak area on proximal stimulation, as compared with the distal stimulus response without any change in the negative peak duration. Nerves at the site of the conduction block show demyelination, endoneural edema, rudimentary onion bulbs and lymphocytic inflammation. Sensory nerves may show mild demyelination, axon loss and lymphocytic inflammation. The majority of patients shows elevated titers of anti-glycolipid antibodies, which may block the Na+ channels, produce demyelination or interfere with remyelination. However, their role in the pathogenesis of multifocal motor neuropathy remains uncertain. Multifocal motor neuropathy is regarded as the predominantly motor variant of chronic inflammatory demyelinating polyneuropathy and can be treated best with immunoglobulins and cyclophosphamide.
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PMID:[Multifocal-motor neuropathy and motor neuropathy with multifocal conduction block (Lewis-Sumner syndrome)]. 778 76


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