Neurological and neuromuscular disorders of the larynx
Declan Costello, Guri Sandhu in Practical Laryngology, 2015
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of unknown cause that affects both upper and lower motor neurons. Loss of the former results in hyperreflexia and spasticity, and loss of the latter results in weakness and muscle wasting. The disease typically becomes apparent after the age of 50, and slightly more men than women are affected. Patients may present to the otolaryngologist with dysarthria, typically caused by tongue muscle involvement. Tongue fasciculations are distinctive and virtually pathognomonic. Relentlessly progressive ALS has a 50% mortality at 4 years, usually related to respiratory muscle weakness.
Motor Neurone Disease and Spinal Muscular Atrophy
John W. Scadding, Nicholas A. Losseff in Clinical Neurology, 2011
MND/ALS is a heterogeneous disorder, both clinically and genetically. The incidence is 1.5–2 per 100 000 per year with a slight male predominance with a male:female ratio of 1.7:1, higher in younger onset cases. The mean duration of illness is three years, although approximately 10 per cent of patients have a slower course of disease with survival extending beyond ten years. Because of the relatively short duration of illness, the prevalence is low at 3–8 per 100 000. This means that at any one time, there are approximately 5000 people suffering from MND/ALS in the UK. This rate is uniform throughout the world with the exception of a few clusters notably on the island of Guam in the Western Pacific and also in the Kii peninsula in Japan, for reasons that have not been satisfactorily explained. The mean age of onset is 60 years, with a wide range of 20–90 years. Rare juvenile forms are also recognized. The life-time risk of developing MND/ALS is one in 2000. Approximately 5–10 per cent of ALS cases are familial, inherited mostly as an autosomal dominant mode of inheritance and this is discussed in more detail later in this chapter. A summary of epidemiological features of ALS is seen in Table 17.1. PBP has a worse prognosis with a median survival of 2–2.5 years and this is likely to reflect the increased risk of aspiration. Conversely, patients with PLS may commonly survive beyond 20 years and can have a normal life span. Despite many studies attempting to ascertain environmental risk factors in the development of MND, none to date has shown convincing, reproducible results and this may, in part, reflect the inherent difficulties in undertaking such studies in a rare, heterogeneous group. However, there appears to be a very weak association with athletic activity, although it remains unclear whether this may be due to musculoskeletal injury precipitating disease or whether, for example, there may be a genetic profile that confers athletic advantage in youth but renders the individual more susceptible to MND in later life.
This is the Good News?
Robert C. Horn in How Will They Know If I'm Dead?, 2017
Intubation is only a temporary answer to breathing problems, however. Many patients are on such life support for just a short time until they no longer need it. Unfortunately, for ALS patients this is not the case. Due to the progressive weakening of the muscles, once a person goes “on the vent,” it is permanent. This meant that I was still faced with the decision of whether to have a tracheotomy and be attached to a ventilator for the rest of my life, however long that might be, or not to do anything and live probably for only a short time. It should be noted in this context that the average life expectancy of ALS patients is three to five years. I had already had the disease for two years and nine months. It would make good reading to recount the drama of my decision-making process. I could describe my soul-searching, the agonizing discussions with physicians and clergy, tearful meditations with my family, the careful weighing of pros and cons, my intense inner struggle. These would all be normal. Perhaps it is abnormal not to have gone through these personal battles. In any case, I didn’t. For me, the decision was a slam dunk, a no-brainer, a done deal, a fait accompli. So no gripping and suspenseful reading here. I remember telling Judy, shortly after I was admitted to the hospital, that “I don’t want to leave here without being able to breathe and eat more easily.”That would mean a tracheotomy, with the attached ventilator, and a gastrointestinal tube.
Anesthetic considerations for laparoscopy for rectal cancer in patient with amyotrophic lateral sclerosis: A case report
Published in Egyptian Journal of Anaesthesia, 2018
Bo-Ra Kim, Young-Bok Lee, Su-Jin Kim, Young-Wan Kim
Amyotrophic lateral sclerosis, which is also known as motor neuron disease, is a chronic neurodegenerative disease characterized by progressive muscular weakness, respiratory muscle disability, and eventual death. Previous epidemiologic studies have shown no association between cancer and amyotrophic lateral sclerosis. Colorectal cancer arising in patients with amyotrophic lateral sclerosis has rarely been reported. Here, we report a case involving rectal cancer arising in a patient with amyotrophic lateral sclerosis who subsequently underwent curative laparoscopic surgery and adjuvant chemotherapy. Amyotrophic lateral sclerosis causes the deterioration of respiratory function by compromising expiratory and inspiratory muscles; accordingly, patients with amyotrophic lateral sclerosis are at high anesthetic risk, especially with respect to general anesthesia. Careful airway management is essential, and intraoperative neuromuscular monitoring is important. A depolarizing muscle relaxant such as succinylcholine should not be used because of the potential risk of developing hyperkalemia or rhabdomyolysis. Thus, a nondepolarizing muscle relaxant (rocuronium) was used at a low dose in this case. In addition, fentanyl for postoperative patient-controlled analgesia should be used cautiously because fentanyl can cause respiratory muscle rigidity, which may reduce postoperative respiratory function in patients with amyotrophic lateral sclerosis.
“Understanding my ALS”. Experiences and reflections of persons with amyotrophic lateral sclerosis and relatives on participation in peer group rehabilitation
Published in Disability and Rehabilitation, 2019
Louise Sofia Madsen, Jørgen Jeppesen, Charlotte Handberg
Purpose: The aim of this study was to gain insight into experiences and reflections of persons with amyotrophic lateral sclerosis and relatives concerning the peer group rehabilitation programme “More Life – Less Illness”. Methods: This qualitative study used the Interpretive Description methodology with Symbolic Interactionism as the analytical framework. Eighteen programme participants representing persons with amyotrophic lateral sclerosis (n = 8) and relatives (n = 10) were included. Data consisted of individual interviews and participant observation. Results: The analysis revealed two categorical themes, “Sense of Community Building” and “Understanding my ALS”, which represented the participants’ experiences and reflections on peer group rehabilitation. Through the analysis, it became apparent that “Sense of Community Building” gave rise to an increased and personalised understanding of amyotrophic lateral sclerosis among the participants. As a part of the continuous processing of the knowledge gained, “Facing Facts” and “Retaining Normality” appeared as subthemes regarding the participants’ ability to live a less dependent and more meaningful life. Conclusions: This study of peer group rehabilitation for persons with amyotrophic lateral sclerosis and relatives indicates that programme participation leads to positive experiences in terms of living a shared meaningful life despite severe disability. The findings may guide practice to develop longitudinal peer group rehabilitation programmes with joint inclusion of persons with amyotrophic lateral sclerosis and relatives.Implications for RehabilitationPeer group rehabilitation may facilitate an increased and personalised understanding of what it means to live with amyotrophic lateral sclerosis.A programme design with six months of sequential sessions enables a continuous processing of shared experiences and gained knowledge.Joint participation of persons with amyotrophic lateral sclerosis and their relatives supports both their internal relationship and social networking.Peer group rehabilitation in amyotrophic lateral sclerosis should help overcome obstacles concerning the needs of participants, accessibility, and geographical distance.
Current clinical trials in amyotrophic lateral sclerosis
Published in Expert Opinion on Investigational Drugs, 2007
Jaydeep M Bhatt, Paul H Gordon
Amyotrophic lateral sclerosis is caused by selective degeneration of motor neurons in the brain and spinal cord. There are still no other effective therapies 10 years after the approval of riluzole for the treatment of amyotrophic lateral sclerosis, but advances in drug development and screening are substantially increasing the number of potential therapeutic agents. This review provides an overview of clinical trial methodology in amyotrophic lateral sclerosis followed by a systematic evaluation of drugs that are presently in Phase I, II and III clinical trials. There is an emphasis on the scientific evidence supporting the selection of each drug being tested, as well as on trial design.
Related Knowledge Centers
- Dysarthria
- Spasticity
- Etiology
- Fasciculation
- Dysphagia
- Muscle Atrophy