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)

Amyotrophic lateral sclerosis is an idiopathic, ultimately fatal disease, clinically manifest as progressive weakness and spasticity, associated with the loss of motoneurons. Circumstantial evidence supports a role for autoimmune processes in the progression of this human disorder. Two immune-mediated animal models have been developed in our laboratory for motor neuron loss. Experimental autoimmune motor neuron disease is a lower motor syndrome induced in guinea pigs by the repeated injection of a purified bovine spinal motor neuron antigen. Affected animals demonstrate extremity weakness, associated with electromyographic and morphologic evidence of denervation, a loss of spinal cord motor neurons, high antibody titers against motor neurons, and localization of IgG immunoreactivity to the neuromuscular junction and motor neuron cytoplasm. Experimental autoimmune grey matter disease is a more acute and severe disorder involving both upper and lower motor neurons, induced in guinea pigs by inoculation of a bovine ventral spinal cord homogenate, in which scattered foci of denervation are observed in the motor cortex and ventral spinal cord. Similarities between these diseases and human ALS are reviewed.
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PMID:Experimental immune-mediated motor neuron diseases: models for human ALS. 845 86

Two spontaneous neurodegenerative diseases of the horse, equine motor neuron disease (EMND) and equine degenerative myeloencephalopathy (EDM), have been associated with alpha-tocopherol deficiency, and both were characterized by prominent accumulations of endothelial lipopigment in the small vessels of the spinal cord. These endothelial pigment deposits appear to be reversible. In EMND horses pasture-supplemented for 9 months or more after the progression of weakness and wasting had arrested, there was very little endothelial lipopigment. The origin and the potential effects of these endothelial lipopigment accumulations are discussed.
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PMID:Endothelial lipopigment as an indicator of alpha-tocopherol deficiency in two equine neurodegenerative diseases. 852

A 73-year-old man with a 16-year history of fasciculations and 15 years of weakness in his right arm was diagnosed with focal motor neuron disease. After 10 years of purely motor symptoms, he developed mild parasthesias although his sensory examination remained normal. Reflexes were reduced or absent in the weak muscles but were normal elsewhere. Nerve conduction was studied in nerves innervating weak muscles and showed severe motor conduction block. Sensory nerve conduction studies were minimally abnormal, showing reduced amplitudes with normal velocities. Based on the clinical picture and the presence of severe motor conduction block, the patient was diagnosed as multifocal motor neuropathy. Treatment with high-dose intravenous immunoglobulin was given with significant improvement in strength and partial resolution of the conduction block. As this case demonstrates, this treatable disorder may occasionally be mistaken for motor neuron disease although the resemblance is only superficial, and it should never be mistaken for amyotrophic lateral sclerosis. Multifocal motor neuropathy is an inflammatory, demyelinating neuropathy which, like chronic inflammatory demyelinating polyneuropathy (CIDP), is probably immune-mediated. It differs from typical CIDP by virtue of a marked predilection for motor axons, a strikingly restricted distribution, and a protracted course. Treatment with high-dose intravenous immunoglobulin is frequently helpful, but other forms of immune manipulation are less effective.
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PMID:AAEM case report #30: multifocal motor neuropathy. 860 89

Kennedy-Alter-Sung (KAS) disease in a hereditary lower motor neuron disease. In this study, we investigate 2 KAS patients presenting with progressive muscle weakness and wasting, action tremor, perioral fasciculation and gynecomastia. Three carriers and 5 healthy members from this 3-generation KAS Chinese family and 60 normal Chinese controls were included in this study. Hormone studies revealed normal serum level in thyrotropin, prolactin, testosterone, leuteinizing hormone, follicle stimulating hormone, and estradiol. Lipid study disclosed type IV hyperlipoproteinemia in 2 KAS patients and 3 healthy members. Molecular studies revealed that the number of CAG triplet repeats in the first exon of androgen receptor gene of the normal allele is in the range of 15-19 and 12-25 in this family and normal controls, respectively. However, the number of CAG repeat of androgen receptor gene were unstable in the mutant alleles with a range of 41-45 and increased from generation to generation (genomic anticipation) in the 2 KAS patients and 3 female carriers. We conclude that the CAG triplet repeats in mutant allele were unstable in the family with the KAS disease. Furthermore, type IV hyperlipoproteinemia may be a co-transmitted syndrome in the family with KAS disease.
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PMID:Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease. 861 Apr 94

Although isolated lower motor neuron disease has been reported as a paraneoplastic complication, it has not been previously described, in association with anti-Hu antibody. We report a 51-year-old man in whom weakness heralded the presence of a small-cell cancer of the lung. His neurological disorder was characterized by an unremitting progression of limb, neck, and chest wall weakness and wasting that commenced and remained predominant in the upper limbs. Electrophysiological studies demonstrated widespread denervation and examination of a muscle biopsy specimen showed evidence of acute and chronic denervation. High titers of anti-Hu antibody were detected in the serum and cerebrospinal fluid. Neither objective measures of strength nor titers of anti-Hu antibody responded to corticosteroids, cyclophosphamide, intravenous immunoglobulins, or plasmapheresis. Death from the complications of motor neuron disease ensued 23 months after the onset of weakness. Autopsy revealed tumor in the lung and on pleural and peritoneal surfaces. There was a loss of anterior horn cells in the spinal cord. Despite the absence of symptomatic cerebellar disease, a decrease in the number of Purkinje cells was also detected.
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PMID:Motor neuron disease: a paraneoplastic process associated with anti-hu antibody and small-cell lung carcinoma. 868 79

A 49-year-old woman developed slowly progressive muscle weakness of the right upper and lower limbs. Physical examination revealed exaggeration of deep tendon reflexes in bilateral lower extremities and a Th5-Th6 girdle sensation. Weakness in her right upper extremity suggested cervical or intracranial lesion. Neuroradiological studies detected no abnormalities in her cervical cord and cranium. So the symptoms and signs were similar to those of motor neuron disease except for the sensory disturbance. MRI study of thoracic cord demonstrated a thoracic extradural arachnoid cyst. After removal of the cyst, the patient's muscle weakness was prominently relieved. We postulate that the cyst stretched spinal cord and dura mater, which led to affection of her cervical cord. We propose weakness of an upper limb as a pseudo-localizing sign of a thoracic extradural arachnoid cyst.
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PMID:[A case of a thoracic extradural arachnoid cyst presenting with slowly progressive muscle weakness in the right upper and lower limbs]. 868 90

Amyotrophic lateral sclerosis (ALS) is a fatal, enigmatic disorder characterised by relentless progression of muscle wasting and weakness until death ensues due to respiratory muscle failure. Intellectual functions are usually spared. ALS, known also as motor neuron disease (MND) in the UK, maladie de Charcot in France and Lou Gehrig's disease in the US, is usually sporadic, but between 5 and 10% of all cases are hereditary, usually inherited as autosomal dominant. Previously thought to be untreatable, as well as incurable, just in the last 3 years ALS has been the greatest clinical application of recent exciting break-throughs in preclinical neurobiology research. Although definitive information regarding the cause(s) and pathogenesis of ALS still escapes us, meaningful demonstration of intercession in the downhill course with specific therapy has been suggested, giving reason to be hopeful, if cautiously and critically optimistic. This review focuses on the recent work from the fields of growth/trophic factors, glutamate/neurotoxicity, neuroprotection and proteases and inhibitors, as well as the approaches to measuring specific effects in patients with the illness. It ends with a eye to the horizon, and the future, and where ALS treatment strategies may be heading after the millennium.
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PMID:Amyotrophic lateral sclerosis: current and future treatment strategies. 874 Dec 31

Multifocal motor neuropathy (MMN) is a newly recognized disorder with a characteristic clinical picture. The diagnosis of MMN is established by the presence of a specific electrodiagnostic abnormality, conduction block confined to motor axons, and in some instances by the associated high titers of anti-GM1 antibodies. Clinical improvement may be achieved by treatment with intravenous immunoglobulin or cyclophosphamide, which underlines the importance of recognizing these patients. We present two patients with slowly progressive predominantly distal weakness and muscle wasting of an upper extremity characteristic of MMN. Extensive electrophysiological examinations are necessary to demonstrate conduction block of motor axons, which distinguishes patients with MMN from patients with motor neuron disease. Other diagnostic possibilities are discussed.
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PMID:["The withered arm". A multifocal motor neuropathy and considerations in differential diagnosis]. 875 95

Respiratory failure is rarely a presenting symptom of motor neuron disease. Seven patients with motor neuron disease who presented with acute respiratory failure of unknown cause and required mechanical ventilation were studied. They all had symptoms and signs suggestive of diaphragmatic weakness. Respiratory involvement seemed disproportionately severe, as six were ambulatory and only three noted limb weakness. Only one had tongue weakness and none had swallowing difficulty. Electrophysiological studies showed widespread denervation and, in particular, diaphragmatic involvement to explain the severe respiratory failure. Weaning from the ventilator was unsuccessful in all cases. The four patients examined at necropsy showed severe loss of anterior horns cells in the cervical cord, with only minimal upper motor neuron involvement. Motor neuron disease should be recognised as a cause of acute respiratory failure, secondary to diaphragmatic paralysis from involvement of phrenic motor neurons.
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PMID:Motor neuron disease presenting as acute respiratory failure: a clinical and pathological study. 877 19

Dural arteriovenous fistula is an uncommon cause of myelopathy. The nidus of the malformation is on or within the dura and results in a mass of serpentine vessels on the dorsal surface of the spinal cord, usually at low thoracic or lumbar levels. Onset is usually between ages 40 and 70 years. Male to female ratio is 4:1. Symptoms include pain, progressive proximal weakness of lower limbs, saddle area numbness, claudication, and difficulty with urination. Course may be fluctuating or slowly progressive. Signs include upper and lower motor neuron abnormalities and nondermatomal sensory loss. Spinal bruit is rare. Magnetic resonance imaging may show an enlarged cord or abnormalities on its dorsal surface. Myelography (patient prone and supine) is the procedure of choice. Motor neuron disease, disc disease, spinal cord tumor, and multiple sclerosis are differential considerations. Untreated patients have a poor prognosis. Excision of the nidus, ligation of the draining vein, and endovascular embolization may be helpful even in patients with severe deficits.
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PMID:Dural arteriovenous fistula of the spinal cord: an uncommon cause of myelopathy. 887 54


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