Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002736 (amyotrophic lateral sclerosis)
 19,048 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyotrophic lateral sclerosis is a progressive degenerative neuromuscular disease of insidious onset. It involves upper and lower motor neurons and causes both spastic and atrophic muscular symptoms. More than one fourth of patients have complaints relating to the head and neck (bulbar palsy); thus, the otolaryngologist may be the first physician to see them. In bulbar forms of Amyotrophic Lateral Sclerosis, voice and/or swallowing difficulties are often the initial signs of disturbance. Predominant symptoms are slurred speech, hoarseness, dysphagia, and dyspnea. Muscular weakness, atrophy, and fasciculation are noted on examination. We show a case and revise bibliography.
 ...
PMID:[Amyotrophic lateral sclerosis that begins with voice and deglution alterations]. 1688 54

Electrophysiological study plays a key role in the diagnosis of amyotrophic lateral sclerosis (ALS). ENMG demonstrates lower motor neuron involvement in muscles clinically involved but also in non clinically involved territories. Conventional EMG shows mixed signs of active denervation, partial chronic denervation and fasciculation, in a variable pattern from one muscle to another. The choice of the muscles to be recorded will privilege muscles innervated by motor neurons from bulbar region, cervical, thoracic and lumbar medulla in order to define the extension of the pathological process. Special ENMG techniques (single fiber EMG, macro-EMG, motor unit firing study, motor unit number estimate) have been proposed for the evaluation and better understanding of pathophysiology. They are not used in routine. Motor conduction study demonstrates motor axons loss and excludes nerve conduction abnormalities of a demyelinating motor neuropathy. Sensory conduction and sensory nerve action potential amplitude are normal in ALS, even in severely motor involved territory. Electrophysiological study can show upper motor neuron involvement when studying motor evoked potentials using transcranial magnetic stimulation of motor cortex. Several parameters have been studied. They are diversely affected and so their diagnostic sensitivity also varies.
 ...
PMID:[Electroneuromyographic criteria of amyotrophic lateral sclerosis]. 1712 88

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting the motor neurons of the spinal cord and brain. Although the definite etiology of ALS remains unclear, occupational or environmental exposures have been considered as one of the potential causes of ALS. Here, we report the case of a patient with ALS who used to work in a factory manufacturing electronic parts and has evidence of acute exposure to lead in excess. A 39-year-old man visited a neurology clinic with symptoms of progressive limb weakness and spasticity, which began 2 years ago. Upon neurological examination, symptoms of atrophy, spasticity and fasciculation of the lower extremities were evident. There were no signs of impairment of the cranial nerves, and cognitive and sensory functions were normal. Complete blood counts, blood chemistries and urinalysis were normal. Serial electromyography showed progressive denervative changes, which were consistent with motor neuron diseases. ALS was diagnosed according to the standard of the "Diagnostic criteria of the World Federation of Neurology". The patient was handling lead oxide (PbO) for development of positive temperature coefficient (PTC) thermist, without being provided with proper respiratory protective equipment. Blood lead level of the patient was measured at 30.86 microg/dL 6 months after he quit his job. Bone lead levels from X-ray fluorescence (XRF) were below the normal range (3 ppm). Blood lead level of his co-workers at the same workplace were above the ACGIH recommended biological exposure index (BEI: 30 microg/dL). We speculated that the ALS in this case was related to excessive exposure to lead.
 ...
PMID:A case of amyotrophic lateral sclerosis in electronic parts manufacturing worker exposed to lead. 1737 98

Electrodiagnostic methods are crucial for the diagnosis of ALS. In nerve conduction studies, normal sensory conduction and absence of the sign of demyelination is required. Here, false-positive signs for demyelination should be paid special attention. Loss of motor units in ALS alone can cause significant slowing and absence of F-waves. Needle electromyography shows active neurogenic changes with denervation potentials (fibrillation potentials and positive sharp waves) and polyphasic and unstable motor unit potentials (MUPs). High-amplitude or giant MUPs may not be evident in rapidly progressing cases. Complex repetitive discharges are frequently seen. World Federation of Neurology established criteria for the diagnosis of ALS at El Escorial workshop in 1994, which was later revised (Airlie House criteria; AHC, 1998). The problem of AHC is its low sensitivity, especially in early cases. Specificity should also be cautioned because widespread fibrillations and frequent high-amplitude MUPs in chronic myopathies, such as inclusion body myositis, may easily fulfil the electrodiagnostic criteria in AHC. The diagnostic value of fasciculation potentials (FPs) is devaluated in AHC because of its "low specificity". However, our investigation using EMG database actually revealed high specificity of FPs for ALS, which may be a key point in considering the pathophysiology of ALS.
 ...
PMID:[Electrodiagnosis of ALS]. 1743 89

Familial spastic paraplegia (FSP) with severe muscular atrophy of hands and feet is exceptional. Autosomal dominant forms were initially described by Silver in 1966. We report two cases, from the same Tunisian family, presenting FSP with severe amyotrophy of the hands. A brother and his sister, aged respectively 37 and 36 years old, presented practically the same clinical picture. Their parents were cousins. The female patient was hospitalized. Both patients developed gait disorders around the age of three years. Muscular atrophy of the hands arose much later, around the age of 20 years. The neurological examination disclosed a spastic gait with distal amyotrophy, severe in the hands and moderate in the feet. Sensitivity was preserved and there was no fasciculation. The spinal cord and cerebral MRI was normal. Electromyography (EMG) showed a neurogenic pattern in the distal muscles. Stimulation of the median, ulnar and sciatica nerves was ineffective. The somatosensory evoked potentials (EP) were delayed (upper limb) or desynchronised (lower limb). The auditory and visual EP were normal. The cerebrospinal fluid contained 1 mononuclear cell/mm3 and 10 mg protein/100 ml. Abnormalities of the cranio-vertebral junction, Arnold-Chiari malformation, syringomyelia and familial juvenile amyotrophic lateral sclerosis (ALS) were excluded and the diagnosis of Silver's syndrome was evoked.
 ...
PMID:[Familial spastic paraplegia with severe amyotrophy of the hands. (Silver syndrome?)]. 1745 50

Fasciculation potentials (FPs) are observed in healthy individuals, but also in patients with neurogenic disorders. The exact site of origin and the clinical relevance in distinguishing, for example, amyotrophic lateral sclerosis (ALS) from other neurogenic diseases based on specific characteristics of the FPs is still a matter of debate and needs further exploration. This report describes the use of high-density surface EMG (HD-sEMG), with multiple electrodes in a compact grid to noninvasively record FPs. The technique provides both temporal and spatial information of fasciculations. Examples of the FPs of a patient diagnosed with definite ALS are presented. FPs are shown in different electrode montages and the unique spatial characteristics of different FPs are presented. During 30-second recordings, 137 FPs were detected that via a decomposition algorithm could be assigned to 11 different underlying sources. It is concluded that HD-sEMG, both because of its noninvasive character and the unique spatiotemporal information, is very suitable to examine fasciculations. It allows long stable recording times and provides quantitative information. This electrophysiologic tool is expected to expand the existing knowledge of FP properties.
 ...
PMID:Fasciculation potentials in high-density surface EMG. 1754 37

In this study, we examined whether quantitative muscle ultrasonography can detect structural muscle changes in early-stage amyotrophic lateral sclerosis (ALS). Bilateral transverse scans were made of five muscles or muscle groups (sternocleidomastoid, biceps brachii/brachialis, forearm flexor group, quadriceps femoris and anterior tibialis muscles) in 48 patients with ALS. Twenty-five patients were also screened for fasciculations. Quantitative analysis revealed a significant increase in echo intensity in all muscles and a decrease in muscle thickness of the biceps brachii, forearm flexors and quadriceps femoris on both sides. Fasciculations were easy to detect in multiple muscles of all screened patients except one. We conclude that quantitative ultrasonography can be used to detect muscle changes caused by ALS in an early phase of the disease. (E-mail: m.zwarts@neuro.umcn.nl).
 ...
PMID:Quantitative muscle ultrasonography in amyotrophic lateral sclerosis. 1796 67

Electrodiagnostic methods play important roles for the diagnosis and evaluation of ALS. They are useful for 1) the early establishment of the diagnosis, 2) the differential diagnosis, and 3) the quantitative evaluation of the progression. Needle electromyography reveals active neurogenic changes over the wide territories of the body. Fibrillation potentials and positive sharp waves indicate presence of denervated fibers. However, they are not specific for ALS or even neurogenic process, and widespread occurrence of fibrillations are also characteristic for myositis and inclusion body myositis (IBM). Fasciculation potentials are spontaneous firing of the lower motor neuron and most of them are supposed to arise from the nerve endings. Fasciculation potentials are seen solely in neurogenic process and sufficiently specific for ALS. Its diagnostic role, especially in the early diagnosis, has been stressed by several researchers, including the present authors (Sonoo 1996), and fasciculation potentials will be given the same significance as fibrillation potentials in the coming Awaji criteria for the diagnosis of ALS. Motor unit potentials (MUPs) in ALS often show polyphasia and instability reflecting the presence of immature sprouts. Unstable MUPs (increased jiggle) are counterparts of instability in SFEMG. Giant MUPs are frequent, but low amplitude MUPs may be also observed in rapidly progressing cases. Observation of the recruitment pattern is crucial for the differential diagnosis from myopathies. Nerve conduction studies are important for the exclusion of other diagnoses, especially multifocal motor neuropathy (MMN). Some degree of slowing and disappearance of F-waves can occur simply due to loss of motor units. The utility of Neurophsiological Index remains to be confirmed. Repetitive nerve stimulation often reveals decremental responses, whose presence supports the diagnosis of ALS. Decremental responses in ALS usually occur in wasted muscles with low CMAP amplitude, and may predict the speed of further deterioration of the CMAP.
 ...
PMID:[Electrodiagnosis of ALS]. 1796 43

Fasciculation is a characteristic feature of amyotrophic lateral sclerosis (ALS). The ectopic firing of motor units usually arises from the motor nerve terminals, and occasionally from the motor neurons, indicating a wide-spread abnormality in axonal excitability properties. ALS is a multi-factorial disease; some gene abnormalities and environmental factors lead to a cell death through a complex cascade, including oxidative stress, mitochondrial dysfunction, excitotoxicity, and impaired axonal transport. It is important to elucidate the pathophysiology of axonal excitability in ALS, because increased axonal excitability would enhance oxidative stress and excitotoxicity, and therefore contribute to motor neuronal death. So far, two kinds of axonal ion channel abnormalities have been found; (1) increased persistent sodium currents, and (2) reduced potassium currents, both increasing axonal excitability and responsible for generation of fasciculations. In excitability testing, findings in ALS are characterized prolonged strength-duration time constant, suggesting increased persistent sodium currents, and greater threshold changes in depolarizing threshold electrotonus and greater supernormality, suggestive of impaired potassium channels. In relation to disease stage, persistent sodium currents increase in the early phase of the disease, possibly associated with collateral sprouting, and then, potassium currents decline. These serial changes in axonal properties could provide new insights into the pathophysiology of ALS, and implications for future therapeutic options.
 ...
PMID:[Altered axonal ion channel function in amyotrophic lateral sclerosis]. 1796 51

Fasciculations are symptoms present in a broad spectrum of conditions, ranging from normal manifestations to motor neuron diseases. They also represent the main picture of benign fasciculation syndrome. We report a case of such syndrome: a 48-years-old woman complaining about fasciculations for three decades who remained with the symptoms even after the compensation of a disclosed hyperthyroidism. The introduction of gabapentin rendered control of her fasciculations. The available data in the literature about the therapeutic approaches for fasciculations are revised, as long as the rare reports of evolution from patients with "benign" fasciculations to cases of amyotrophic lateral sclerosis, underlining the importance of following the patients with fasciculations.
 ...
PMID:Benign fasciculations responsive to gabapentin. 1809 67


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>