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)

Motor neuron diseases, manifest as weakness and atrophy of skeletal muscles, occur in infancy, childhood, and adult life. Some forms of this disease are inherited. Motor neurons are selectively affected and exhibit cytoskeletal pathology, primarily enlargements of proximal axons by accumulations of transported neurofilaments. A motor neuron disease, hereditary canine spinal muscular atrophy, has been discovered in Brittany spaniels. The disease is inherited as an autosomal dominant characteristic and shows striking clinical and pathological features in common with human motor neuron disease. The availability of this excellent animal model of the human condition has allowed neurobiological investigations of the dynamics of structural and chemical pathologies of vulnerable neurons.
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PMID:Hereditary canine spinal muscular atrophy: canine motor neuron disease. 230 75

A Japanese male with juvenile Sandhoff disease is described. The patient was a product of full-term normal pregnancy from non-consanguineous parents. Since age 10, he developed progressive dysarthria and proximal muscle atrophy and weakness. Mental deterioration and cerebellar ataxia are also noted since the age of 20. On neurological examination at age 35, he showed decreased mentality (IQ 62), marked atrophy and weakness of proximal muscles, cerebellar ataxia and increased deep tendon reflexes. Brain CT scans revealed moderate to marked atrophy of cerebellum. Giant MUP, fasciculation potentials and positive sharp waves were observed on EMG examination. Biopsied sural nerve showed markedly decreased myelinated fibers. Hexosaminidase A and B activities in leukocytes and cultured fibroblasts were about 10% of normal values, while other lysosomal enzyme activities were within normal range. Rectal biopsy demonstrated lamellar inclusion bodies in submucosal ganglion cells. This is the first Japanese patient with juvenile Sandhoff disease presenting symptoms similar to motor neuron disease and cerebellar degeneration.
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PMID:[A case of juvenile Sandhoff disease]. 235 Sep 30

Eighteen patients with old poliomyelitis were assessed in order to determine the incidence and severity of late complications. Sixty-one percent complained of new weakness, 83% fatigue and 17% muscle pain. After assessment 33% (six patients) were judged to have significant new weakness and muscle fatigue that could not be explained by other causes, and this group may have postpoliomyelitis progressive muscular atrophy or postpolio syndrome. Onset of symptoms was typically about 30 years after the acute illness; new weakness was relatively mild and progression was slow over many years. Clinically and pathologically this disorder is distinct from idiopathic motor neuron disease, and is not life threatening.
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PMID:Neuromuscular symptoms in patients with previous poliomyelitis: a New Zealand study. 252 9

A thirty-eight-year-old man presented with a six year history of symptoms resembling an anterior horn cell disorder. There was progressive upper extremity wasting and weakness in the absence of sensory complaints. Electrophysiologic abnormalities were confined to motor nerve conduction and indicated a demyelinating process involving the brachial plexus and major proximal upper extremity nerve trucks bilaterally. Biopsy of the proximal right ulnar nerve revealed changes suggesting a chronic demyelinating process, and onion-bulb formations were present. Immunohistochemical staining for S-100 protein was positive in the cells comprising the onion-bulbs, indicating a Schwann cell, not a perineurial origin of these cells. After 8 years, symptoms have failed to appear in the lower limbs. Recent reports in the literature have begun to delineate the syndrome, which appears to represent an unusual, localized or multifocal, sometimes inflammatory, clinically benign neuropathy that can mimic motor neuron disease in its earlier stages. We report the first such case with underlying pathology.
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PMID:Neuropathy with onion bulb formations and pure motor manifestations. 254 90

Hereditary canine spinal muscular atrophy (HCSMA) is a dominantly inherited motor neuron disease that produces muscle weakness and atrophy. Immunocytochemical and computer-imaging morphometric methods were used to compare early changes that occurred in dogs with HCSMA (n = 4) versus controls (n = 2). The size and number of neurons in the ventral horn and the number of motor neurons expressing choline acetyltransferase were quantitated. The density of all ventral horn neurons per micrometer squared in dogs with HCSMA was greater than controls, and there were more small neurons than in controls. Immunocytochemical methods revealed more small cholinergic neurons and fewer large cholinergic neurons in HCSMA than in controls, suggesting growth arrest in HCSMA or a shift in size class from large cholinergic neurons to small ones. The density of cholinergic neurons per micrometer squared was not significantly different between the two groups. Analysis of predicted distributions of cholinergic and noncholinergic neurons revealed that HCSMA cholinergic neurons were smaller and that, in some size classes, fewer neurons expressed choline acetyltransferase. These observations indicate that in HCSMA the motor neuron fails to achieve normal size and/or undergoes atrophy.
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PMID:Changes in neuronal size and neurotransmitter marker in hereditary canine spinal muscular atrophy. 256 15

Although respiratory insufficiency is common in the advanced stages of motor neuron disease, some patients may develop distressing respiratory symptoms early in the course of the disease or even present with respiratory failure or arrest. We describe 14 patients with motor neuron disease who were considered for respiratory support; 11 received such support and all derived significant symptomatic improvement without distressing prolongation of life. Of the 8 patients with typical features of amyotrophic lateral sclerosis, 7 had predominant diaphragm weakness and 1 generalized respiratory muscle weakness; 7 received negative pressure ventilation by cuirass which improved both the quality of sleep and exercise tolerance. Three patients with predominantly bulbar disease had nocturnal apnoea or hypoventilation. Two received no support. One, who also developed diaphragm weakness, was treated by a cuirass, continuous positive airway pressure (CPAP), and later nocturnal intermittent positive pressure ventilation (IPPV). Three patients with progressive muscular atrophy had predominant diaphragm weakness or nocturnal apnoea. These patients received nocturnal CPAP, cuirass or IPPV with symptomatic benefit. This series shows that some patients with motor neuron disease, mainly those with symptoms due to respiratory muscle weakness in the absence of severe bulbar impairment, derive symptomatic benefit from supported ventilation.
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PMID:Respiratory complications and their management in motor neuron disease. 280 10

Two sisters presented with progressive muscle cramps, as well as wasting and weakness of the legs with onset after age 20. They also showed intention tremor of the upper extremities and dysarthria starting during the first decade. The older patient also had fasciculations; the younger, hyperreflexia. Total plasma beta-hexosaminidase (Hex) activity with 4-methylumbelliferyl-acetyl-glucosamine as substrate was reduced to 1.4% and 2.7% of the control in the 2 patients, respectively. Hex A activity measured by 4-methylumbelliferyl-N-acetylglucosamine-6-O-sulphate as substrate was 9.9% and 12.8% of the mean control value in the 2 patients, respectively. Hex B activity was undetectable in both patients. Leukocyte total Hex activity was 7-8% of normal; residual Hex A activity in the 2 patients was 17.8% and 16.3% of normal controls, respectively. Fibroblastic residual Hex A activity in the 2 patients was 9.6% and 22% of normal mean value, respectively. Appendiceal ganglion cells contained membranous cytoplasmic bodies in the younger patient. Thin layer chromatography of the appendiceal extract from one patient (III/2) showed a marked increase of GM2 ganglioside, and some increase of GM3 ganglioside. Northern blots performed on fibroblast cell lines from both patients for the demonstration of alpha and beta locus messenger RNA showed no difference between patients and control. These patients have a rare form of adult-onset progressive motor neuron disease presumably due to abnormal beta subunits, causing severe deficiency of both Hex A and Hex B. The phenotypic expression of this disease is similar to motor neuron disease due to alpha locus mutations, which suggests that the Hex A deficiency, even though only a partial one, may be the important pathogenic factor.
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PMID:Adult onset motor neuronopathy in the juvenile type of hexosaminidase A and B deficiency. 297 15

beta-N-Oxalylamino-L-alanine (BOAA) and beta-N-methylamino-L-alanine (BMAA) are chemically related excitant amino acids isolated from the seed of Lathyrus sativus (BOAA) and Cycas circinalis (BMAA), consumption of which has been linked to lathyrism (an upper motor neuron disorder) and Guam amyotrophic lateral sclerosis (ALS), respectively. Both diseases are associated with degeneration of motor neurons. Experimentally, single doses of BOAA or BMAA induce seizures in neonatal mice and postsynaptic neuronal oedema and degeneration in explants of mouse spinal cord and frontal cortex. Preliminary studies show that these behavioural and pathological effects are differentially blocked by glutamate-receptor antagonists. In macaques, several weeks of daily oral doses of BOAA produce clinical and electrophysiological signs of corticospinal dysfunction identical to those seen in comparably well-nourished animals receiving a fortified diet based on seed of Lathyrus sativus. By contrast, comparable oral dosing with BMAA precipitates tremor and weakness, bradykinesia and behavioural changes, with conduction deficits in the principal motor pathway. BOAA and BMAA (or a metabolite thereof) are the first members of the excitotoxin family to have been shown to possess chronic motor-system toxic potential. These observations provide a rational basis for searching for comparable endogenous neurotoxins in sporadic and inherited forms of human motor neuron disease.
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PMID:Discovery and partial characterization of primate motor-system toxins. 310 39

While the authors have often observed the hand presenting spastic dysfunction and deficient pain sensation in patients with cervical compression myelopathy, which has been termed "Myelopathy hand," they have occasionally seen a different type of myelopathy hand characterized by muscle wasting and motor dysfunction in patients with cervical spondylosis. This type of myelopathy hand they have termed "amyotrophic type of myelopathy hand." Because it is similar to the hand of a patient suffering from motor neuron disease, and yet is treatable, the authors thought it worthwhile to report this type of hand in detail. The main clinical features are localized wasting and weakness of the extrinsic and intrinsic hand muscles, but not accompanied by either sensory loss or spastic quadriparesis. For an accurate diagnosis, attention should be paid to the narrow anteroposterior (AP) canal diameter of the cervical spine (less than 13mm), multisegmental spondylosis in C5-6 and C6-7 disc levels and a reduced transectional area of the spinal cord at the C7, C8, or T1 spinal cord segments. To date the authors have seen 15 patients with this hand; seven underwent either spondylectomy or laminoplasty. In six patients who were satisfied with surgical results, recovery from muscle wasting and weakness was seen.
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PMID:Myelopathy hand characterized by muscle wasting. A different type of myelopathy hand in patients with cervical spondylosis. 319 87

We report five patients with pure motor neuropathy characterized by multifocal weakness, muscle atrophy that was sometimes profound, cramps, and fasciculations with relatively preserved reflexes. The clinical picture led to an initial diagnosis of motor neuron disease in all cases, but nerve conduction studies revealed multifocal conduction block confined to motor axons and predominantly involving proximal nerve segments. Routine sensory nerve conduction studies, ascending compound nerve action potentials, and somatosensory evoked potentials were all normal even through nerve segments in which motor conduction was severely blocked. Onset of symptoms was insidious, and progression was indolent. In two cases, after many years of neuropathy, sensory abnormalities developed but remained clinically trivial. These unusual cases probably have the same pathogenesis as previously described patients with persistent multifocal conduction block. Distinction from motor neuron disease is critical, since chronic demyelinating neuropathy may respond to treatment.
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PMID:Multifocal acquired demyelinating neuropathy masquerading as motor neuron disease. 334 85


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