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)

ALS is a neurodegenerative disease that affects nerve cells in the brain and spinal cord that control voluntary skeletal muscle. The muscle weakness that results from ALS is relentlessly progressive and rehabilitative attempts to strengthen affected muscles usually fail. When managing swallowing and communication disorders in individuals with ALS, the goals are to maximize function and safety through the use of compensatory strategies, energy conservation, and patient and caregiver education and counseling. This paper will review the current methods of assessment and treatment used with this population in the outpatient setting.
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PMID:Diagnostic and therapeutic methods in the management of dysphagia in the ALS population: issues in efficacy for the out-patient setting. 1819 26

Neuromuscular respiratory failure is the cause of death in the majority of patients with ALS. Respiratory muscle dysfunction impacts on quality of life and survival. Attentive management of respiratory muscle weakness is an important aspect of the management of the ALS patient. The respiratory muscles may be thought of as four functional groups: the inspiratory muscles, the expiratory muscles, the accessory muscles of respiration, and the upper airway muscles. This paper will review the structure and function of the neuromuscular respiratory system, and the evaluation and management of respiratory muscle dysfunction in ALS patients.
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PMID:Evaluation and management of respiratory muscle dysfunction in ALS. 1819 29

We report a 22-year-old female who presented with distal muscular atrophy and weakness in all limbs for two years. Reflexes were symmetrically brisk and electrodiagnostic studies were consistent with upper and lower motor neuron involvement. A diagnosis of juvenile ALS was considered. However, surgery for achalasia in childhood and identification of alacrima and adrenal insufficiency suggested Triple A syndrome accompanied by neurological symptoms. Sequencing of the AAAS gene identified compound heterozygous mutations confirming the clinical diagnosis and demonstrating that Triple A syndrome can mimic juvenile ALS.
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PMID:Triple A syndrome mimicking ALS. 1861 37

The corticospinal tract provides the most direct pathway over which the cerebral cortex controls movement. In rodents and marsupials this influence is exerted largely upon interneurons in the dorsal horn of the spinal gray matter. However, ascending the phylogenetic scale through carnivores and primates, the number of corticospinal axons grows and corticospinal terminations shift progressively toward the interneurons of the intermediate zone and ventral horn, ultimately forming increasing numbers of synaptic terminations directly on the motoneurons themselves. Based on this phylogenetic trend, humans are believed to have more direct corticomotoneuronal synapses than any other species, consistent with observations that humans suffer more extensive loss of motility from lesions of the corticospinal tract than do other mammals. Beyond this phylogenetic trend, studies of the corticospinal system in animals have provided insight into the motor abnormalities that result from corticospinal lesions in humans. Corticospinal lesions impair many functionally related muscles and movements in parallel, both because of the divergent output from single corticomotoneuronal cells to multiple motoneuron pools, and because of the convergent input to different motoneuron pools from large, overlapping cortical territories. Furthermore, the weakness, slowness and inflexible, stereotyped movements that remain after corticospinal lesions reflect the loss of input to spinal interneurons and motoneurons from corticospinal neurons, the discharge frequency of which varies with the force, direction and speed of both gross and fine movements. That these deficits resulting from corticospinal lesions are more prominent in humans than in animals indicates, moreover, that animals make greater use of additional descending pathways to control movement. Animal studies have shown that although the bulk of the corticospinal tract arises from the primary motor cortex, this projection is not the only route via which the brain controls movement. Adjacent areas in the frontal and parietal lobes also contribute axons to the corticospinal tract, as well as having corticocortical connections with the motor cortex. Furthermore, the motor cortex and premotor cortex both project to the red nucleus and to the pontomedullary reticular formation, from which the rubrospinal and reticulospinal tracts arise. However, given the limitations on experimental studies in humans, comparative animal studies of the distributed descending system through which the brain controls movement continue to provide deeper understanding and insight into the deficits resulting from human corticospinal lesions, whether caused by stroke, tumor, multiple sclerosis, trauma or ALS.
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PMID:Chapter 2 Comparative anatomy and physiology of the corticospinal system. 1880 87

We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington's disease (HD) and concurrent clinically definite ALS by El Escorial criteria. The patient presented with asymmetric upper limb amyotrophy and weakness, and subsequently developed chorea and cognitive change. Genetic testing confirmed the presence of expanded trinucleotide repeats in huntingtin, consistent with a diagnosis of Huntington's disease. This case confirms the rare coexistence of Huntington's disease and motor neuron degeneration.
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PMID:Huntington's disease presenting as amyotrophic lateral sclerosis. 2000 77

Respiratory impairment, due to respiratory muscle weakness, is a major cause of morbidity and mortality in patients with amyotrophic lateral sclerosis/motor neuron disease (ALS/MND). Threshold loading may strengthen the inspiratory muscles and thereby improve patient prognosis. A phase II, double-blind, randomized-controlled trial was undertaken to determine whether a 12-week inspiratory muscle training programme attenuated the decline in respiratory function and inspiratory muscle strength in patients with ALS/MND. Nine patients were randomized to inspiratory muscle training and 10 to sham training. Primary endpoints were respiratory function (forced vital capacity, vital capacity), lung volumes and inspiratory muscle strength. Patients were assessed before, during and immediately after a 12-week training period, and at eight weeks follow-up. While improvements in inspiratory muscle strength were observed in both treatment arms, there was a non-significant increase in maximum inspiratory pressure of 6.1% in the experimental group compared to controls (standard error of mean, 6.93%; 95% confidence interval -8.58 -20.79; p=0.39). The gains in inspiratory muscle strength were partially reversed during a period of training cessation. In conclusion, inspiratory muscle training may potentially strengthen the inspiratory muscles and slow the decline in respiratory function in patients with ALS/MND.
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PMID:INSPIRATIonAL--INSPIRAtory muscle training in amyotrophic lateral sclerosis. 1992 29

We report a 54-year-old male with progressive and asymmetrical lower extremity weakness caused by familial amyotrophic lateral sclerosis (FALS) with a Cu/Zn superoxidase dismutase 1 (SOD1) gene mutation. He was initially misdiagnosed with a lumbosacral polyradiculopathy because of spinal stenosis and underwent a laminectomy surgery with no benefit. He was also misdiagnosed with a myopathy due to moderate CK elevation from acute denervation and pseudomyopathic changes on muscle biopsies from chronic denervation. He eventually developed respiratory muscle weakness and upper motor neuron signs, consistent with familial ALS.
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PMID:Familial ALS with SOD1 mutation misdiagnosed with polyradiculopathy and myopathy. 1992 43

Pseudopolyneuritic form of ALS is a subtype of ALS characterized by distal weakness of the unilateral lower limb and absence of Achilles tendon reflex (ATR) at disease onset. Recognition of this form of ALS is important for clinicians because the combination of distal weakness of the lower limb and absence of ATR usually suggests peripheral neuropathy. We reviewed the clinical records of 42 autopsy-proven sporadic ALS cases and found three cases that showed onset of weakness of the unilateral lower limb with distal dominance and absence of ATR. The disease duration in the three cases was 2, 3 and 19 years, respectively. The clinical features of the patient with a course of 19 years had been restricted to lower motor neuron signs. Histopathologically, consistent findings in the three cases were severe motor neuron loss throughout the whole spinal cord, with relative preservation of the hypoglossal nucleus. Reflecting this finding, TDP-43-positive neuronal cytoplasmic inclusions in the spinal cord were sparse in two cases, and absent in a third. In the patient showing a clinical course of 19 years, mild corticospinal tract degeneration appeared to correspond to the absence of upper motor neuron signs and prolonged disease duration. In this case only, Bunina bodies were not demonstrated. In this study, we clarified the clinical and pathological heterogeneity of this form of ALS.
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PMID:Pseudopolyneuritic form of ALS revisited: clinical and pathological heterogeneity. 2005 Oct 14

We report a 64-year-old female with predominantly bulbar amyotrophic lateral sclerosis who experienced 'roaring' in her ears. She was diagnosed with patulous Eustachian tube, which is presumed to occur secondary to bulbar weakness. The roaring adversely affected the management of her ALS by impairing her ability to tolerate BiPaP. A review of the relevant literature is reported.
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PMID:Roaring in the ears: patulous Eustachian tube in bulbar amyotrophic lateral sclerosis. 2019 85

An 80-year-old man (patient 1) was admitted to our hospital with numbness of the right leg and weakness of the lower extremities, predominantly in the right leg, for 1 year previously. Neurological examination revealed moderate weakness without atrophy, and fasciculation in the bilateral lower extremities. No hyperreflexia was noted, and the plantar response was flexor. Neither bulbar palsy nor sensory disturbance was observed. Electromyography (EMG) showed a chronic neurogenic pattern, including giant motor unit potentials and reduced interference in all four limb muscles. MRI images of the cervical and lumbar spines showed severe age-related spondylosis. The clinical and laboratory findings led to a diagnosis of spinal progressive muscular atrophy. Motor paralysis progressed slowly for the following four years, culminating in respiratory failure. A 79-year-man, the younger brother of patient 1 (patient 2), suffered from gait disturbance for 3 years before the admission to our hospital. During the following 3 years, bilateral leg weakness developed, causing difficulty walking. Neurological examination revealed a diffuse mild weakness with atrophy and fasciculation in the bilateral lower extremities; the right deltoid muscle was also mildly weak. Mild hyperreflexia was also noted on the left side, and the plantar response was extensor on the left. EMG showed acute and chronic neurogenic patterns in the four limb muscles. Because the missense mutation c.377 T > C; p.L126S was found on exon 5 of the superoxide dismutase (SOD) 1 gene in this patient, a diagnosis of familial ALS was made. Eight patients reported as familial ALS with the SOD1L126S mutation, including the present cases, all developed an onset of weakness in the lower extremities, but showed few upper motor neuron signs. It is important to consider the possibility of this type of familial ALS in a case of spinal progressive muscular atrophy with late-onset and mild progression, if family history is positive.
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PMID:[Two cases of familial amyotrophic lateral sclerosis with a SOD1L126S mutation showing high age at onset and slow progression]. 2023 85


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