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Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS, sometimes called Lou Gehrig's disease) is a progressive, invariably fatal motor neurone disease. In ALS, both the upper motor neurons and the lower motor neurons degenerate or die, ceasing to send messages to muscles. Unable to function, the muscles gradually weaken, waste away (atrophy), and twitch (fasciculations). Eventually, the ability of the brain to start and control voluntary movement is lost. more...

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ALS causes weakness with a wide range of disabilities. Eventually, all muscles under voluntary control are affected, and patients lose their strength and the ability to move their arms, legs, and body. When muscles in the diaphragm and chest wall fail, patients lose the ability to breathe without help from mechanical ventilation. Most people with ALS die from respiratory failure, usually within 3 to 5 years from the onset of symptoms. However, about 10 % of ALS patients survive for 10 or more years.


As many as 20,000 Americans have ALS, and an estimated 5,000 people in the United States are diagnosed with the disease each year. ALS is one of the most common neuromuscular diseases worldwide, and people of all races and ethnic backgrounds are affected. ALS most commonly strikes people between 40 and 60 years of age, but younger and older people also can develop the disease. Men are affected more often than women.

In 90 to 95 % of all ALS cases, the disease occurs apparently at random with no clearly associated risk factors. Patients do not have a family history of the disease, and their family members are not considered to be at increased risk for developing ALS.

About 5 to 10 % of all ALS cases are inherited. The familial form of ALS usually results from a pattern of inheritance that requires only one parent to carry the gene responsible for the disease. About 20 % of all familial cases result from a specific genetic defect that leads to mutation of the enzyme known as superoxide dismutase 1 (SOD1). Research on this mutation is providing clues about the possible causes of motor neuron death in ALS. Not all familial ALS cases are due to the SOD1 mutation, therefore other unidentified genetic causes clearly exist.


The onset of ALS may be so subtle that the symptoms are frequently overlooked. The earliest symptoms may include twitching, cramping, or stiffness of muscles; muscle weakness affecting an arm or a leg; slurred and nasal speech; or difficulty chewing or swallowing. These general complaints then develop into more obvious weakness or atrophy that may cause a physician to suspect ALS.

The parts of the body affected by early symptoms of ALS depend on which muscles in the body are damaged first. In some cases, symptoms initially affect one of the legs, and patients experience awkwardness when walking or running or they notice that they are tripping or stumbling more often. Some patients first see the effects of the disease on a hand or arm as they experience difficulty with simple tasks requiring manual dexterity such as buttoning a shirt, writing, or turning a key in a lock. Other patients notice speech problems.


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Appropriate management of respiratory problems is of utmost importance in the treatment of patients with amyotrophic lateral sclerosis
From CHEST, 6/1/05 by Emilio Servera

Respiratory problems (RPs) are the main cause of death in patients with amyotrophic lateral sclerosis (ALS). (1,2) However, nowadays many of these RPs can be successfully managed. (3) Therefore, it is disturbing to see that a great number of patients are not receiving appropriate management for their RPs, with the consequences of premature death and avoidable suffering. The very interesting report by Farrero et al in this issue of CHEST (see page 2132) describes the impact on survival of patients when applying two different ways of tackling their management. The first could be called the conventional approach (which is more or less the way the patients were attended in this study from 1988 to 1997). The second way is the appropriate approach, in which the neurologists, being aware of the gravity of RPs in these patients) coordinate their management with the pulmonologists (in some hospitals with the Physical Medicine and Rehabilitation Department staff) once they have a diagnosis. The pulmonologists take on the responsibility of designing a protocol for good clinical practice to prevent and treat the RPs.

Unfortunately, the situation that the patients lived through from 1988 to 1997 in the study by Farrero et al, before a preestablished management protocol for RPs was followed, is not part of a way of doing things that is remote in time or that no longer exists. When one observes (as one easily can, given all of the information that we have at our fingertips) how these patients are managed today, not in developing countries but in well-developed countries, one can see that a great many patients still do not receive protocolized management for their RPs, but rather they continue with what we euphemistically called conventional management.

What does the conventional management of ALS patients consist of nowadays? In many hospitals, when neurologists diagnose ALS in patients, they still commence treatment with riluzole and give the patients a long-term appointment without informing them about the RPs that may start to appear or about what they should do to prevent them (or what to do if they do appear); nor do physicians request that the patient write an advanced directive for their care. As with the patients in the study by Farrero et al between 1988 and 1997, contact with the pulmonologist usually still takes place in acute settings. This is often due to the following conditions: acute bronchitis after several days of evolution, which causes respiratory secretions that cannot be expelled because the patient cannot cough; pneumonia (sometimes due to aspirations, the probability and risk of which the patient has not been informed of); somnolence that has been interfering with the patient's social and intellectual activities; or severe orthopnea (sometimes the patient goes to the hospital when he/she has been sleeping sitting up for many days). But at times even at this point the pulmonologist is not called in. Decisions regarding noninvasive management, tracheostomy, or palliative treatment are made by emergency department doctors and critical care physicians, and sometimes the patient's opinion is almost ignored. Whatever the case, the decision on treatment occurs at a wholly inappropriate time.

Unfortunately, the problems do not only depend on the lack of interest many neurologists may show for controlling their patients' RPs. It must be stressed that today not enough pulmonologists have the knowledge or appropriate skills for managing the clinical problems that these patients pose at times. They may consider noninvasive ventilation (NIV) to be simply low-span bilevel ventilation with just a nasal mask, and the management of secretions to be merely chest percussion and postural drainage. Consequently, after that treatment there remains only tracheostomy as possible therapy, or death if a tracheostomy is rejected. Moreover, the physicians frequently have not been trained in making decisions based on ethical values. This combination of lack of clinical competence and difficulty in making decisions based on ethical principles may cause errors at critical moments that cannot be put right.

What has been improved in the conventional approach to the treatment of ALS patients? Farrero et al explain in their report how they managed a patient satisfactorily in 1997, when some hospitals were introducing changes in some apparently inflexible treatment procedures (4,5) but that did not become widespread until the present time. After diagnosis, they saw their patients for a staging of the target RPs and to plan how to manage them. Physicians assessed the patients functionally (with hindsight one feels they should have given the same relevance to maximum insufflation capacity [MIC] and peak cough flow [PCF] as they gave to FVC), (6) they evaluated night pulse oximetric saturation, they assisted in coughing (even though only with manual aids), they used volumetric ventilators, and they gave information for requesting advanced directives. If they alternated between interfaces in NIV (which was still not usual at that time), they did not refer to how many patients used mouthpieces when nasal masks failed, so there is not a sufficiently detailed description of the steps taken before they pronounced the occurrence of NIV intolerance and, consequently, NIV failure.

Farrero et al provide a clear and useful message about the importance of early respiratory evaluation and appropriate RP management, but their results regarding the influence of bulbar involvement (BI) should be interpreted with great caution. Although we still do not have an reliable way to evaluate BI for respiratory purposes, the criteria that Farrero et al used to determine BI (ie, "presence of deglutition and phonation alterations") is simplistic and lacking in objectivity, especially when they describe a subgroup of patients as having severe BI but do not say what determined this severity or what made the subgroup different from the rest of the group regarding BI. These results obtained by Farrero et al were presented when the importance of BI in the success of NIV therapy had already been determined. (7,8) In any case, the results of Farrero et al lack the necessary soundness to provide reliable information; and the authors seem to acknowledge this in the "Conclusions" section of the abstract in the article.

Despite the obvious positive changes observed, some essential aspects of the appropriate management of ALS patients must still be improved:

1. Organization of qualified management. Obviously, organizational strategies depend on those that each country provides in their health service. But within the strategy of each nation, it is very important that respiratory care units for ALS patients be planned as a model for compassionate and high tech care for people living with ALS, to foster independence and an active meaningful life. They should provide a very hopeful approach to ALS as a disability rather than as the end of life (E.A. Oppenheimer; personal communication). This approach would be in contrast to those that have for so long advocated a "low-tech" approach to care for ALS patients, emphasizing end-of-life issues. The authorities who organize the provision of health services should ensure that ALS patients receive standardized quality care both in the hospital and at home, (9) and that caregivers obtain support enabling them to improve their obviously affected quality of life. (10)

2. Quality of clinical practice. Noninvasive muscle aids may significantly prolong life without resorting to tracheostomy. (2,7) It is possible to maintain NIV 24 h per day in ALS patients, not only when they are in a stable condition (2) but also during acute episodes. (11,12) This is true if the BI is not severe, and if nasal or oronasal ventilation is combined with mouthpiece ventilation and with mechanical aids to clear secretions. Nowadays, all ALS patients should have safe and easy access to suitable ventilators and interfaces, and to coughing aid procedures, especially all of those without BI who reject tracheostomy. Considering that the adequate management of secretions is of the utmost importance in successful NIV therapy, it is surprising that its importance is still undervalued. (13) The skills of pneumologists should improve so that they can apply all the noninvasive therapy possibilities before regarding failure as inevitable. Moreover, when a tracheostomy is necessary and the patients agree to it, it is essential to work toward improving the comfort of patients and toward decreasing the problems that their caregivers encounter in their management. (14,15)

Even though BI is the most frequent cause of failure in the noninvasive management of RPs, (7,8) most assessment questionnaires are not designed for respiratory purposes. (16) Thus, it is essential to be very cautious when evaluating BI with a view to providing patients with information and making therapeutic decisions. (17) Regarding another aspect of BI, a percutaneous endoscopic gastrostomy should not be carried out either too late, due to negligence, or too soon, because of some spirometric measurements (18) of dubious predictive value, so long as the respiratory care is adequate. (19) Functional assessment should be carried out regularly to obtain measurements that provide therapeutic decisions as opposed to other procedures that are complicated or uncomfortable and are not really useful in clinical practice. The measurement of MIC should be an essential complement to the measurement of FVC. Spontaneous PCF should be measured together with measurements obtained by manual and mechanical aids. (17)

3. Clinical research. Patients are very excited about the possible success of stem cell therapy, but until positive results, which many of them will not live to see, appear, clinical research must be fostered. This research is necessary to improve the management of many of the RPs in clinical practice. Finally, to devise research that harmonizes the methodological requirements and ethical principles for the treatment of ALS patients is not easy. It is, however, essential.

Emilio Servera, MD, FCCP

Jesus Sancho, MD

Valencia, Spain

Drs. Servera and Sancho are affiliated with the Department of Respiratory Medicine Hospital Clinico Universitario. Dr. Servera is Professor of' Respiratory Diseases and Dr. Sancho is Associate Professor of Respiratory Diseases, Physical Therapy School, Valencia University.

Reproduction of this article is prohibited without written permission from the American College of Chest Physicians (www.chestjournal. org/misc/reprints.shtml).

Correspondence to: Emilio Servera, MD, FCCP, Blasco Ibanez 84, 46021 Valencia, Spain; e-mail:


(1) Lechtzin N, Wiener CM, Clawson NSN, et al. Hospitalization in amyotrophic lateral sclerosis: causes, costs and outcomes. Neurology 2001; 56:753-757

(2) Bach JR. Amyotrophic lateral sclerosis: prolongation of life by noninvasive respiratory aids. Chest 2002; 122:92-98

(3) Oppenheimer EA. Treating respiratory failure in ALS: the details are coming clearer. J Neurol Sci 2003; 209:1-4

(4) Bach JR. Update and perspective on noninvasive respiratory muscle aids: Part 1. The inspiratory aids. Chest 1994; 105: 1230-1240

(5) Bach JR. Update and perspective on noninvasive respiratory muscle aids: Part 2. The expiratory aids. Chest 1994; 105: 1538-1544

(6) Kang SW, Bach JR. Maximum insufflation capacity. Chest 2000; 118:61-63

(7) Bach JR, Bianchi C, Anficro E. Oximetry and indications for tracheostomy for amyotrophic lateral sclerosis. Chest 2004; 126:1502-1507

(8) Aboussouan LS, Khan SU, Meeker DP, et al. Effect of noninvasive posive pressure ventilation on survival in amyotrophic lateral sclerosis. Ann Intern Med 1997; 127:450-453

(9) Servera E, Perez D, Gomez-Merino E, et al. Respiratory care units for noninvasive mechanical ventilation in motor neuron disease. Thorax 2000; 55:345-346

(10) Cazzoli PA, Oppenheimer EA. Home mechanical ventilation for amyotrophic lateral sclerosis: nasal compared to tracheostomy intermittent pressure ventilation. J Neurol Sci 1996; 139:249-255

(11) Servera E, Sancho J, Gomez-Merino E, et al. Noninvasive management of an acute chest infection for a patient with ALS. J Neurol Sci 2003; 209:111-113

(12) Sancho J, Servera E, Zafra MJ, et al. Continuous noninvasive ventilation in neuromuscular patients with respiratory failure due to an acute chest episode. Arch Bronconeumol 2003; 39(suppl):65s

(13) Servera E, Sancho J, Zafra MJ, et al. Secretion management must be considered when reporting success or failure of noninvasive ventilation [letter]. Chest 2003; 123:1773

(14) Bach JR, Alba AS. Tracheostomy ventilation: a study of efficacy with deflated and cuffless tubes. Chest 1990; 97:679-683

(15) Sancho J, Servera E, Vergara P, et al. Mechanical insufflation-exsufflation vs tracheal suctioning via tracheostomy tubes for patients with amyotropbic lateral sclerosis: a pilot study. Am J Phys Med Rehabil 2003; 82:750-753

(16) Cedarbaum JM, Stambler N, Malta E, et al. The ALSFRS-R: a revised ALS functional rating scale that incorporates assessments of respiratory function: BDNF ALS Study Group (phase III). J Neurol Sci 1999; 169:13-21

(17) Sancho J, Servera E, Diaz J, et al. Efficacy of mechanical insufflation-exsufflation in medically stable patients with amyotrophic lateral sclerosis. Chest 2004; 125:1400-1405

(18) Miller RG, Rosenberg JA, Gelinas DF, et al. Practice parameter: the care of the patient with amyotrophic lateral sclerosis (an evidence-based review): report of the Quality Standards Subcommittee of the American Academy of Neurology; ALS Practice Parameters Task Force. Neurology 1999; 52:1311-1323

(19) Gregory S, Siderowf A, Golaszewski AL, et al. Gastrostomy insertion in ALS patients with low vital capacity: respiratory support and survival. Neurology 2002; 58:485-487

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