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)

A 66 year old man whose activity was almost normal underwent a lombar sympathectomy under general anesthesia (thiopental, gallamine, N2O). Immediately after recovery an acute respiratory distress became evident. It was due to a respiratory paralysis on which neostigmine had no effect. Neurologic examination showed the symptoms of an amyotrophic lateral sclerosis which had remained unknown so far. The respiratory paralysis persisted and one year later artificial ventilation is still necessary almost continuously. Two aspects of this very rare observation are discussed: first the cause and mecanisms of the aggravation of the neurologic disease following anesthesia, secondly the rather unusually important part played by the respiratory paralysis in this case of lateral amyotrophic sclerosis.
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PMID:[Aggravation following anaesthesia in a case of unknown lateral amyotrophic sclerosis (author's transl)]. 49 45

An autopsied case of amyotrophic lateral sclerosis complicated by cervical syringomyelia was reported. The case was a 59-year-old man, who first noticed weakness of both lower extremities at 54-year-old. The weakness spread to both upper extremities within 2 years. Cervical myelography revealed multi-level cervical spondylosis and anterior fusion of C5-C7 was done. But the weakness and atrophy of proximal muscle, diminished deep tendon reflex on upper extremities, hyperreflexia and pathological reflexes on both legs, tongue fasciculation and respiratory muscle weakness developed successively, and the patient died of respiratory distress at 59-year-old. Autopsy revealed multiple independent four syrinxes located at the level between C2-C7. One of these syrinxes had ependymal cell lining and thought to be idiopathic syringomyelia. The other three syrinxes were considered to be the cavitation in association with cervical spondylotic myelopathy. Degeneration and decreasing of spinal anterior horn cells, atrophy of medullary pyramis and Bunina bodies were observed as features of typical amyotrophic lateral sclerosis. Cervical spondylosis as causative lesion of multiple syrinxes was discussed, and relationship between ALS and the syrinxes was not indicated clearly.
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PMID:[An autopsy case of amyotrophic lateral sclerosis associated with cervical syringomyelia]. 220 38

Respiratory insufficiency of restrictive origin, often aggravated by obstructive disorders, is constant in amyotrophic lateral sclerosis (ALS), and is usually progressive. Respiratory distress may be life-threatening while the neurologic disease is still limited. Furthermore, the diagnosis of ALS is not always obvious when urgent therapeutic decisions have to be made. Results are reported in 16 patients with ALS treated by assisted ventilation: 14 by endotracheal and 2 by nasobuccal routes. Transient improvement in respiratory function in 9 patients allowed partial return of spontaneous respiration. Known mean duration of course (n = 14) from first sign to death (12 cases) or last control (2 cases) was 3 years 3 months (1 to 9 years). Survival from tracheotomy to death or last control (July 1988 in 12 cases) was 12 months (3 to 48 months). These patients can now return home under the care of associations providing respirators.
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PMID:[Amyotrophic lateral sclerosis and respiratory assistance]. 266 Feb 21

Skin sympathetic nerve activity (SSNA) was microneurographically analyzed in five patients with amyotrophic lateral sclerosis (ALS) (four men, one woman; age ranges between 36 and 68 years) and 16 age- and sex-matched controls. The duration of illness after the onset was ranged between 1 and 3 years. Three cases were the common form of ALS showing a moderate to severe involvement of the upper extremities and mild degree of bulbar signs. Two were the pseudopolyneuritic form with lower motor neuron sign predominant in the legs. All these patients could walk by alone and did not show any respiratory distress. SSNA was recorded directly by inserting a tungsten microelectrode into the tibial nerve at the popliteal fossa as described before. The sweat rate and skin blood flow on the area innervated by the tibial nerve were also monitored. Resting activity of the SSNA (bursts/minute) was significantly higher (p < 0.05) in patients with ALS as compared with the controls. The rate of increase in SSNA under the load of mental arithmetic, tone, electric stimulation of the median nerve and immersion of the hand into cold water were only slightly higher in ALS. The rate of increase in SSNA response by these stimuli against the basal SSNA, however, was not significant. These results indicate that skin sympathetic nerve functions are hyperactive in ALS particularly in the basal resting level, though the underlying mechanism is unclear.
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PMID:[Skin sympathetic nerve activity in amyotrophic lateral sclerosis]. 802 34

We report a 72-year-old man with sporadic amyotrophic lateral sclerosis (ALS) who showed concomitant histopathology of Alzheimer's disease (AD) and incidental Lewy body disease. The patient presented at the age of 70 years with distal upper limb amyotrophy. Thereafter, gait disturbance and respiratory distress progressed. Neuropathological examination showed mild frontal lobe and anterior spinal root atrophy. There was moderate loss of upper and lower motor neurons, and Bunina bodies and skein-like inclusions were present in the spinal anterior horns and facial and hypoglossal nuclei, confirming the pathology of ALS. In addition, however, numerous amyloid plaques were observed throughout the entire cerebral neocortex, nucleus accumbens and amygdaloid body. Many neurofibrillary tangles were also evident in the medial temporal cortex. Moreover, the substantia nigra showed mild degeneration, and Lewy bodies were found in the substantia nigra, locus ceruleus, basal nucleus of Meynert and peripheral autonomic ganglia. Although neither parkinsonism nor dementia was noted during the clinical course, our final neuropathological diagnosis was sporadic ALS, AD and incidental Lewy body disease (or presymptomatic Parkinson's disease). Whether or not the coexistence of these three diseases in the same patient was merely coincidental is of considerable interest.
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PMID:[An autopsy case of amyotrophic lateral sclerosis with concomitant Alzheimer's and incidental Lewy body diseases]. 892 32

Mask-applied continuous positive airway pressure (CPAP) has been shown to reduce morbidity among patients with acute respiratory distress in the setting of cardiogenic pulmonary edema. OBJECTIVE: To determine a minimum percentage of patients transported by ALS for difficulty breathing who could potentially benefit from a pre-hospital trial of CPAP. METHODS: Paramedic run sheets were collected from consecutive, adult, ALS transports for a chief complaint of difficulty breathing over a 6 week period in a large urban EMS system. Demographic information, medical history, vital signs, clinical assessments, and transport times were abstracted into a database by trained reviewers. Strict criteria for CPAP were defined in advance as "acute respiratory distress," meaning (1) respiratory rate > 25 and (2) labored or shallow breathing, and "presumed cardiogenic pulmonary edema," meaning (3) a prior history of heart disease and (4) presence of bilateral rales on exam. RESULTS: Data from 240 consecutive run sheets were compiled. Median patient age was 66 years old, with females outnumbering males 168 to 81. A total of 15 spontaneously breathing patients met all 4 criteria for CPAP. Four of these patients were either hypotensive (SBP < 90) or had potential for airway compromise (i.e., obtundation), making CPAP inadvisable. Among the 11 remaining patients (4.4% of all transports for difficult breathing), median transport time was 20 minutes (range 14-31 minutes). CONCLUSIONS: Using very strict criteria, a small but not significant percentage of patients are optimal candidates for a prehospital trial of CPAP. Transport times would appear to justify this type of intervention. A prospective study is currently under way to test the feasibility of administering CPAP to such patients in the prehospital setting.
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PMID:EMS transports for difficulty breathing: is there a potential role for CPAP in the prehospital setting? 1101 53

A 60-year-old man who has suffered dysarthria since 1999. He had noticed twitching of right upper extremity and orbicularis oris muscle since August 2000. The bulbar type of amyotrophic lateral sclerosis was diagnosed. He was admitted for evaluation of sleep disorder with respiratory distress on November 20, 2000. Arterial blood gas analysis on admission showed marked hypercapnea (PaCO2:51.6 Torr). Nocturnal hypoxia index, which was calculated using the nocturnal oximetry monitoring, was elevated. Non-invasive positive pressure ventilation started during sleep at night, although it was earlier than to start for mechanical ventilation. After one week, both hypercapnea and his nocturnal hypoxia index, together with symptoms, improved markedly. Respiratory insufficiency due to progressive fatigue of respiratory muscles, such as diaphragm and intercostal muscles, is a major cause of death in amyotrophic lateral sclerosis. In general mechanical ventilation is introduced when marked hypercapnea and dyspnea become clinically overt. However, the exact time to introduce noninvasive methods of ventilatory support for amyotrophic lateral sclerosis has not been established. Based on the observation in this patient, we would suggest that earlier introduction of non-invasive mechanical support for ventilation (nocturnal hypoxia index > 70) would be useful to improve the symptoms and to prolong the life of patients with ALS. The nocturnal hypoxia index is useful to decide the time of the introduction of non-invasive mechanical support for ventilation.
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PMID:[Early treatment with non-invasive positive pressure ventilation a successful case of bulbar type amyotrophic lateral sclerosis]. 1177 29

Human motoneuron disease is characterized by loss of motor endplates, axonal degeneration, and cell death of motoneurons. The identification of the underlying gene defects for familial ALS, spinal muscular atrophy (SMA), and spinal muscular atrophy with respiratory distress (SMARD) has pointed to distinct pathophysiological mechanisms that are responsible for the various forms of the disease. Accumulating evidence from mouse models suggests that enhanced vulnerability and sensitivity to proapoptotic stimuli is only responsible for some but not all forms of motoneuron disease. Mechanisms that modulate microtubule assembly and the axonal transport machinery are defective in several spontaneous and ENU (ethylnitrososurea) mutagenized mouse models but also in patients with mutations in the p150 subunit of dynactin. Recent evidence suggests that axonal growth defects contribute significantly to the pathophysiology of spinal muscular atrophy. Reduced levels of the survival motoneuron protein that are responsible for SMA lead to disturbed RNA processing in motoneurons. This could also affect axonal transport of mRNAs for beta-actin and other proteins that play an essential role in axon growth and synaptic function. The local translation of specific proteins might be affected, because developing motoneurons contain ribosome-like structures in distal axons and growth cones. Altogether, the evidence from these mouse models and the new genetic data from patients suggest that axon growth and maintenance involves a variety of mechanisms, including microtubule assembly and axonal transport of proteins and ribonucleoproteins (RNPs). Thus, defects in axon maintenance could play a leading role in the development of several forms of human motoneuron disease.
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PMID:Axonal defects in mouse models of motoneuron disease. 1470 58

Patients in the Department of Neurology undergoing treatment for disorders such as cerebrovascular disease, dementia, metabolic disease, neuromuscular disease and intractable disease, are included as subjects requiring terminal care. Intractable diseases ware defined by the Ministry of Health and Welfare (Ministry of Health, Welfare and Labor) in 1972 as being of unknown etiology, untreatable, chronically progressive and sometimes worsened by the care provided when nursing these patients. Intractable diseases in the Department of Neurology rank with those seen in other departments. Amyotrophic lateral sclerosis is the most difficult to treat due to the lack of effective drugs. On the other hand, Parkinson disease is the most treatable among intractable diseases in the Department of Neurology with the appearance of several new effective drugs. TRH (thyrotropin releasing hormone) is effective for ataxic gait in some patients with spinocerebellar degeneration. In the terminal care of intractable diseases in the Department of Neurology, common problems such as disturbances of swallowing, respiration and speaking develop in almost all patients and measures must be taken to treat these disturbances. Artificial respiration must be considered for respiratory distress. Artificial feeding by intubation must be considered for swallowing disturbance. All kinds of communication aids must be considered for speaking difficulties. The medical and nursing care team needs to manage these problems with consideration of the quality of life of the patients and their families as well as the complication of the diseases.
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PMID:[Terminal care in the Department of Neurology]. 1499 9

A 47-year-old man who presented moderate muscle weakness in the neck and all the extremities was diagnosed as having early stage of amyotrophic lateral sclerosis (ALS). He did not have bulbar dysfunction and respiratory distress. His pulmonary function tests and arterial blood gas analysis showed no abnormalities, but polysomnography (PSG) revealed sleep-disordered breathing requiring mechanical support ventilation. Bi-level positive airway pressure treatment was started only at night, which improved both sleep-disordered breathing and daytime activity. PSG should be considered in ALS patients at an early clinical stage in order to predict mild respiratory dysfunction.
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PMID:[Usefulness of polysomnography at an early stage of amyotrophic lateral sclerosis]. 1676 2


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