1/14. Problems and pitfalls in the diagnosis of ALS.Although misdiagnosis of amyotrophic lateral sclerosis (ALS) is rare, it may be more difficult to make a diagnosis in some groups of patients than in others. If a patient presents in the later stages of the disease, only a small number of alternative diagnoses need to be considered. These include spinal muscular atrophies of adult onset, inclusion body myositis and motor neuropathies with conduction block. The latter group in particular may present a serious diagnostic problem, as several groups have recently reported patients suffering from lower motor neuron syndrome without detectable conduction block, who responded unexpectedly to treatment with immunoglobulins. As recent laboratory results suggest that a lengthy pre-clinical period may precede clinical ALS, there is increased pressure for clinicians to make an early diagnosis so that the maximum effect can be achieved from neuroprotective drugs. Thus, diseases such as distal motor amyotrophies, pressure palsies of motor branches of hand nerves, and cervical myelopathies, which can be differentiated mainly by their time-course, may be relevant in the differential diagnosis of ALS in some patients. During recent years, a few patients have been seen in our clinic who presented with pure motor deficits but later developed a more complex pattern of vulnerability suggestive of multisystem degeneration. The existence of patients with a disease that borders the spectrum of motor neuron diseases cannot be disputed. These patients include those carrying the Huntington mutation and those suffering from guam and new guinea disease ('ALS/PD'). From our experience, however, these 'difficult' diagnoses represent less than 10% of the patients seen in our clinic.- - - - - - - - - - ranking = 1keywords = pressure (Clic here for more details about this article) |
2/14. Unexpectedly severe sleep and respiratory pathology in patients with amyotrophic lateral sclerosis.Daytime fatigue and sleep disturbance are frequent complaints in patients with amyotrophic lateral sclerosis (ALS). However, polysomnographic data are sparse. Nocturnal respiratory insufficiency may occur despite nearly normal daytime pulmonary function. We describe the clinical presentation and polysomnographic findings in two patients with clinically and electrophysiologically confirmed ALS with minimal weakness but excessive daytime sleepiness. polysomnography in the first patient showed a respiratory disturbance index of 43.5, and profound oxygen desaturations to 62%. The second patient had prolonged periods of hypoventilation, with oxygen saturations oscillating between 86 and 83%. Both patients showed severe sleep maintenance insomnia with a sleep efficiency < 40% and frequent arousals while asleep. Application of continuous positive airway pressure (CPAP) restored normal nocturnal ventilation, blood oxygenation and sleep parameters in the first patient; compliance, however, was poor. The second patient was unable to tolerate CPAP. We conclude that ALS patients with excessive daytime sleepiness or insomnia should undergo polysomnography to adequately diagnose nocturnal respiratory insufficiency and sleep disturbance. compliance with treatment, however, may be poor.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
3/14. Bilevel nasal positive airway pressure and ballooning of the stomach.We describe a case of severe gastric insufflation in a patient with amyotrophic lateral sclerosis who was receiving bilevel nasal positive airway pressure (BNPAP) ventilation (BiPAP; Respironics; Murrysville, PA). The injection of inspiratory flow into the esophagus, aerophagia, and air trapping below the gastroesophageal junction after a meal are probably the major causes. We suggest that BNPAP ventilation can be a cause of serious gastric insufflation in a patient who lies supine, especially after a meal, and attention should be paid to avoiding this complication by having the patient sit up for about half an hour after a meal.- - - - - - - - - - ranking = 2.5keywords = pressure (Clic here for more details about this article) |
4/14. amyotrophic lateral sclerosis associated with insomnia and the aggravation of sleep-disordered breathing.A case of amyotrophic lateral sclerosis (ALS) diagnosed by sleep-disordered breathing is described. The patient's chief complaints were insomnia and nocturnal dyspnea after taking a hypnotic drug. On examination, he showed restrictive ventilatory impairment, alveolar hypoventilation and hypoxia. Polysomnographic examination revealed marked hypoxia during REM sleep periods, decreased duration of REM sleep periods, and increased sleep disruption. amyotrophic lateral sclerosis was diagnosed by the neurological finding of paraspinal muscle weakness and neurogenic changes revealed by needle electromyography and muscle biopsy. The daytime and nocturnal respiratory insufficiency improved after nasal bilevel positive airway pressure therapy. amyotrophic lateral sclerosis should be suspected as a cause of insomnia and nocturnal dyspnea.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
5/14. An autopsy case of amyotrophic lateral sclerosis accompanied by syndrome of inappropriate secretion of antidiuretic hormone.We report an autopsy-confirmed case of amyotrophic lateral sclerosis (ALS) accompanied by syndrome of inappropriate secretion of antidiuretic hormone (SIADH). A 67-year-old man was admitted to our hospital with muscle weakness, dysarthria and dysphagia. During hospitalization, respiratory insufficiency was ingravescent, and hyponatremia, hypo-osmolarity, elevated osmotic pressure of urine, and elevated urinary sodium excretion were noted. Based on these findings we diagnosed ALS with SIADH, and treatment with infusion of concentrated NaCl was started. However, the patient died of respiratory failure on day 50. We assumed that severely restrictive ventilatory impairment was the cause of SIADH in this case.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
6/14. dyspnea-fasciculation syndrome: early respiratory failure in ALS with minimal motor signs.BACKGROUND: Respiratory failure (RF) in ALS typically occurs as a late manifestation. While there are uncommon patient reports of early RF, most had moderate limb and bulbar weakness. DESIGN/methods: We reviewed clinical and laboratory data from 3 patients with ALS, early RF, and minor motor signs. RESULTS: patients were male, ages 62, 75 and 80 years. The patients presented with 6 months to 2 years of exertional and nocturnal dyspnea, daytime hypersomnolence, limb fatigability, and weight loss. Exam showed tachypnea, slight distal limb weakness, and hyperreflexia. All three patients had prominent fasciculations, insomnia, supportive EMG findings, FVC (32-74% predicted), PO2 (50-80 mmHg), PCO2(52-76 mmHg) and required BiPAP (Bi-level positive airway pressure). One patient had a reduced FEV1/FVC of 0.55 and a 15% increase in FEV1 post-bronchodilator suggesting concurrent chronic obstructive pulmonary disease (COPD). However, his P(A-a)O2 was only 7 mmHg suggesting COPD was not the major factor causing respiratory failure; his extreme hypercapnea could not be explained by ALS or COPD alone. CONCLUSIONS: ALS may present with unexplained RF, or sleep disturbance resembling sleep apnea, without significant bulbar or limb weakness. In our experience, such patients are elderly with dyspnea, fasciculations, and other minor motor signs: the dyspnea-fasciculation syndrome. Concurrent COPD may augment the effect of ALS, resulting in earlier RF. FVC may be relatively preserved, despite hypercapnia.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
7/14. Warning signs of imminent respiratory failure in neurological patients.Critically ill neurological patients often need ventilatory assistance. After acute central nervous system insults, the inability to protect the airway and impaired central respiratory drive can only be managed with endotracheal intubation and mechanical ventilation. In patients with acute or worsening neuromuscular disorders, diaphragmatic failure and pronounced bulbar weakness may necessitate intubation to assist in the work of breathing or to prevent upper airway obstruction. Simple respiratory function tests performed at the bedside should be used to monitor patients with progressive neuromuscular respiratory insufficiency. Noninvasive positive pressure ventilation plays an important role in the management of respiratory failure in patients with neuromuscular respiratory failure, and its indications may be expanded in the future.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
8/14. Early respiratory insufficiency in the ALS patient: a case study.respiratory insufficiency is a problem that develops in nearly all people diagnosed with amyotrophic lateral sclerosis (ALS). Noninvasive positive pressure ventilation (NIPPV) is the treatment of choice for ALS patients with respiratory insufficiency. Forced vital capacity (FVC) is the test most commonly used to qualify ALS patients for NIPPV; however, some research suggests FVC may not be the best tool to measure early respiratory insufficiency in all patients with ALS. This case study introduces an ALS patient who had normal FVC results, symptoms of respiratory insufficiency, and abnormal nocturnal oximetry. After NIPPV initiation, the patient reported improved sleep and less daytime fatigue, which he associated with the start of NIPPV treatment.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
9/14. Consequences of misdiagnosing mitochondrial disorder.Diagnosing mitochondrial disorder remains a challenge. In a 75-year-old women, with short stature, muscle cramps, ptosis, fasciculations and progressive, proximal limb weakness and wasting, hyponatriemia, abnormal lactate-stress-test, and slightly abnormal electromyography, muscle biopsy suggested granulomatous myositis. Corticosteroids and azathioprin were ineffective. After a second work-up amyotrophic-lateral-sclerosis was diagnosed. riluzole was started, without effect. She developed respiratory insufficiency, requiring mechanical ventilation. Apical ballooning was found. After switching to non-invasive positive pressure ventilation and physiotherapy, she markedly improved. After a third diagnostic work-up, mitochondrial disorder was suspected. Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder.- - - - - - - - - - ranking = 0.5keywords = pressure (Clic here for more details about this article) |
10/14. Respiratory complications and their management in motor neuron disease.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.- - - - - - - - - - ranking = 1.5keywords = pressure (Clic here for more details about this article) |
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