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

The cause of amyotrophic lateral sclerosis remains unknown, and no curative treatment is available. From a rehabilitation perspective, however, comprehensive management and symptomatic treatment can minimize complications, increase function and improve the patient's quality of life. Quinine, diazepam (Valium) and phenytoin (Dilantin) may relieve muscle cramps, and orthoses may permit greater participation in daily activities. Problems with respiration and swallowing may require surgical procedures and the use of feeding tubes. Decisions regarding surgical intervention must be made in the context of the patient's overall status.
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PMID:Amyotrophic lateral sclerosis: comprehensive management. 42 66

All identified Israeli patients with amyotrophic lateral sclerosis (ALS) with onset of the disease from 1959 through 1975 (n = 318) were evaluated clinically. Most of our patients (63%) presented with weakness; only 10% presented with atrophy and 3% with fasciculations. In 31% of the cases, the onset of the disease was focal and 22% of the patients presented with bulbar signs, but only 6 patients presented with emotional lability (pseudo-bulbar). Twelve per cent of the patients presented with muscle cramps, pain or paraesthesia. Atypical signs such as motor cranial nerve lesion, dementia, sphincter disturbance and deep sensation loss are discussed. A relatively high proportion of our patients suffered from malignant tumour, but with no association with any specific tumour. The median survival time was 3 years. Patients with onset of their disease with bulbar signs had a shorter life expectancy (2.2 years): Twenty nine per cent of our patients survived for more than 5 years and 16% for more than 10 years.
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PMID:Amyotrophic lateral sclerosis. A study of its presentation and prognosis. 405 36

Responses of single muscle fibres to electrical stimulation of the tibial nerve trunk or of the intramuscular nerve twigs were detected in young volunteers without evidence of neurological disease. With suitably adjusted amplitude of the stimulus, clear-cut double distribution of the response latencies was obtained in some fibres. Experiments with two stimulating cathodes and with recordings from more than one muscle fibre in the same motor unit suggest that axon reflexes were involved. The results indicate that axonal branching normally occurs not only in the intramuscular course of the nerve but also outside the muscle, in some cases even rather high in the nerve trunk. The possibility is discussed that axon reflexes may underlie fasciculations evoked by neostigmine and those seen in some other conditions, such as amyotrophic lateral sclerosis, as well as muscle cramps in normal subjects.
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PMID:Demonstration of axon reflexes in human motor nerve fibres. 424 70

A Spanish family transmits, as an autosomal dominant trait, a form of amyotrophic lateral sclerosis characterized by an unusually prolonged evolution of the disease in all affected members. Precocity and persistence of muscle cramps, presence of unilateral proximal segmental myoclonus and early abolition of ankle jerks are other clinical features conspicuous in this family. This type of hereditary ALS of non-chamorro origin and prolonged evolution is rare.
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PMID:Hereditary amyotrophic lateral sclerosis. 722 65

We investigated the mechanism of cramps in 2 patients: a 48-year-old man with bulbospinal neuronopathy, and a 46-year-old man with amyotrophic lateral sclerosis. Cramps were quite easily induced by volitional exertion and high-frequency stimulation of the peripheral nerves. When an ulnar nerve was blocked with lidocaine at the elbow, no cramp was induced despite the application of high-frequency stimulation at the wrist. Diazepam (GABAA agonist) was effective in the first patient and baclofen (GABAB agonist) in the second, with no cramps induced in spite of increasing stimulation intensity. Impairment of interneurons mediated by GABA as the neurotransmitter is thought to be involved in the mechanism of the cramps.
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PMID:Muscle cramp as the result of impaired GABA function--an electrophysiological and pharmacological observation. 841 75

In three patients, men of 43, 44 and 55 years old with muscle cramps, fasciculations and easy fatiguability of muscles, cramp-fasciculation syndrome was diagnosed. This is a benign disorder which has to be differentiated from amyotrophic lateral sclerosis. Response to treatment (benzodiazepines or carbamazepine) is good.
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PMID:[Muscle cramps and fasciculations not always ominous: muscle cramp-fasciculation syndrome]. 881 7

Amyotrophic lateral sclerosis can be associated with profound sleep disturbances resulting from factors such as reduced mobility, muscle cramps, swallowing problems and anxiety. Although few studies have examined sleep patterns in ALS, disease-related symptoms such as restless legs and increased myoclonic activity can disturb both the initiation and maintenance of sleep. In addition, sleep-disordered breathing, exhibiting as hypoventilation, has been reported in patients with ALS. Interference with sleep patterns may produce daytime symptoms and activities of daily living can be further affected by an increased incidence of depression. Pharmacotherapy of sleep disturbance should be directed at the underlying cause and when hypnotics are required these should be short acting to minimise the carry-over effect into daytime.
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PMID:Sleep in patients with amyotrophic lateral sclerosis. 911 83

Functional abnormalities, especially the excitability changes of axon in the peripheral nerve involvement, were reviewed. In GBS and CIDP, the correlation between conduction block and anti-ganglioside antibodies have been discussed. Using anti GM1 antibody positive sera, the suppression of voltage-gated sodium channels (VGSC) has been reported. Although this findings have not been confirmed, the involvement of VGSC may be an important mechanism for eliciting conduction block. In Isaacs' syndrome, voltage-gated potassium channels (VGKC) were suppressed by autoantibodies to VGKC. Furthermore, in generalized myokymia syndrome which shows only myokymia and muscle cramp without grip myotonia, VGKCs are also suppressed in some cases. These findings suggest that some patients with myokymia and neuromyotonia are induced by anti-VGKC antibodies. For evaluating the axonal excitability in vivo, the threshold electrotonus method have been developed and applied for the involvement of peripheral nerves. In ALS, impairment of potassium conductance was shown and was speculated to have the possible rrelation with fasciculation. Thus threshold electrotonus method will be an important method for evaluating axonal excitability in human. The accumulated knowledge about the involvement of axonal ion channels will expand and will be categorized as axonal channelopathies.
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PMID:[Impairment of peripheral nerve excitability]. 957 60

Machado-Joseph disease is one of the most common hereditary spinocerebellar degenerative disorders with a wide range of clinical manifestations. Pathology studies have shown mild to moderate loss of anterior horn cells and, in terms of spinal pathology, Machado-Joseph disease is regarded as a type of lower motoneuron disease. Muscle cramps are often associated with lower motoneuron disorders, but features of cramps in Machado-Joseph disease patients have never been studied. We investigated the incidence and nature of muscle cramps in Machado-Joseph disease patients, the excitability properties of motor axons [strength-duration time constant (tau(SD)), threshold electrotonus, refractoriness and supernormality] using threshold tracking and the effects of mexiletine hydrochloride on those cramps. Of 20 consecutive patients, 16 (80%) had frequent, severe muscle cramps in the legs, trunk or arms that disturbed their daily activities. The frequency of pathological muscle cramps was similar to that for patients with amyotrophic lateral sclerosis (68%) and higher than those for patients with spinal muscular atrophy (33%) or peripheral axonal neuropathy (24%). Threshold-tracking studies showed that tau(SD), which in part reflects Na(+) conductance at the resting membrane potential, was significantly greater in the Machado-Joseph disease patients than in normal subjects; severe muscle cramps were associated with a longer tau(SD). Threshold electrotonus, refractoriness and supernormality were not significantly different between Machado-Joseph disease patients and normal subjects. Eight Machado-Joseph disease patients with severe cramps, who received mexiletine treatment, experienced nearly complete relief with a partial normalization of tau(SD) (P = 0.08). Muscle cramps are a very frequent and disabling factor in Machado-Joseph disease. Pathological muscle cramps responded well to mexiletine treatment, and this is consistent with the hypothesis that they are caused by an increase in persistent Na(+) conductance, possibly associated with axonal regeneration or collateral sprouting.
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PMID:Muscle cramp in Machado-Joseph disease: altered motor axonal excitability properties and mexiletine treatment. 1261 52

Patients with amyotrophic lateral sclerosis (ALS) have symptoms of progressive muscle weakness, of disturbed speech and swallowing, and in the terminal phase those of respiratory weakness. Treatment options, in particular those for excessive weight loss and respiratory weakness, should be introduced to the patients and their families when the patient is emotionally capable and before dysarthria severely hampers communication. Special equipment for keeping the patient as mobile as possible should be made available much earlier than in the case of other diseases of the muscles as in ALS progression is much faster. Cramps, pathological crying or laughter, spasms, and spasticity can all be treated by medication. When speech can no longer be understood, adaptive strategies such as sign language, mime, posture and communication apparatus varying from a note pad to advanced computer systems can be used. Sialorrhoea, caused by difficulty swallowing with its accompanying danger of aspiration can be halted by the use of medication, by radiotherapy and by the injection into the salivary glands of botulin A toxin. Weight loss, also a result of dysphagia, can be avoided by eating frequent small meals or if necessary performing a percutaneous endoscopic or radiological gastroscopy. Excess mucus in the respiratory tract can be treated with anticholinergics. Difficulty in coughing up thick and sticky mucus cannot always be adequately helped. Respiratory weakness is treatable by external respiratory supportive therapy using a nasal mask, as well as invasive respiratory support via a trachcostoma and by treating the symptoms of respiratory weakness. The latter form of treatment is palliative and forms part of terminal care. During the terminal phase restlessness, anxiety, pain, and dyspnoea require the most attention. Treatment requires careful multidisciplinary cooperation.
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PMID:[The symptomatic treatment of amyotrophic lateral sclerosis]. 1519 69


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