Neuromuscular Laboratory
Maher Kurdi in Neuromuscular Pathology Made Easy, 2021
Neuromuscular pathology service is committed to providing a precise evaluation for the most comprehensive diagnosis of neuromuscular diseases. This service is presented in a special lab examining muscle and nerve tissue specimens. The laboratory handling of these biopsies requires specialist knowledge beyond routine anatomical pathology services. In this chapter, the reader learns about the essential requirements to establish a functional neuromuscular lab (NML). The equipment provided in a NML is distinct from other specialized labs. In addition to the general equipment found in any histopathology lab, an extensive panel of special instruments, chemicals, stains, enzymatic reactions, and immunoperoxidase staining for muscle proteins should be provided in the NML to facilitate the diagnosis of several neuromuscular diseases.
Axial Myopathy
Maher Kurdi in Neuromuscular Pathology Made Easy, 2021
Axial myopathy is a rare neuromuscular disease entity affecting paraspinal musculature. It is characterized by progressive weakness of spinal extensor muscles, fatty replacement of the affected muscle, and pathological abnormalities in muscle biopsy. It could be predominant constituting the major part of myopathy or widespread to involve other skeletal muscles. It can also be a separate condition (myopathy with predominant axial involvement) or a part of other myopathic dystrophy diseases. Because normal paraspinal muscle mimics myopathic patterns in histology, muscle biopsy from axial muscles is not usually recommended. In this chapter, we define the axial myopathies and their subtypes and the diagnostic challenge in muscle biopsy.
Physical medicine interventions and rehabilitation of patients with neuromuscular disease
Claudio Donner, Roger Goldstein, Nicolino Ambrosino in Pulmonary Rehabilitation, 2005
For the prevention of respiratory complications, three muscle groups must be considered: the inspiratory, expiratory and bulbar muscles. While inspiratory and expiratory muscle aids can fully support alveolar ventilation and eliminate airway secretions without the need to resort to tracheostomy, once bulbar muscle dysfunction results in an irreversible decrease in baseline oxyhaemoglobin saturation (SpO2), tracheostomy becomes necessary to prolong survival. Fortunately, this rarely becomes necessary for any patients with neuromuscular disease other than severely advanced patients with bulbar amyotrophic lateral sclerosis (ALS) and a small minority of patients with spinal muscular atrophy type 1.
The prevalence and severity of disease-related disabilities and their impact on quality of life in neuromuscular diseases
Published in Disability and Rehabilitation, 2019
Isaac Bos, Klaske Wynia, Josué Almansa, Gea Drost, Berry Kremer, Jan Kuks
Purpose: People with neuromuscular disease experience lower quality of life levels than people from the general population. We examined the prevalence and severity of a broad range of neuromuscular disease-related disabilities and their impact on health-related quality of life. Materials and methods: A cross-sectional postal survey study was conducted among patients diagnosed with neuromuscular disease. Patients completed the Neuromuscular Disease Impact Profile, a disease-related disability impact questionnaire, and two generic health-related quality of life questionnaires: the medical outcome study Short Form Questionnaire and the World Health Organization Quality of Life-bref. The impact of disabilities on quality of life was estimated using multiple regression analyses. Results: Six hundred sixty two patients (68% response rate) completed the questionnaires. There were no differences in quality of life between diagnosis-based subgroups. ‘Impairments in muscle functions’ had the highest prevalence and severity scores in the total sample and diagnosis-based subgroups. Neuromuscular disease-related disabilities showed strong and independent associations with all aspects of health-related quality of life. ‘Impairments in mental functions and pain’ was the most important predictor of health-related quality of life followed by ‘restrictions in participation in life situations’. Conclusions: Although ‘impairment in muscle functions’ is the most prevalent and severe disability, the ‘impairments in mental functions and pain’ have a strong association with health-related quality of life in patients with a neuromuscular disease.Implications for rehabilitationDisease-related disabilities have a strong and independent associations with all aspects of health-related quality of life.Although health-related domains of quality of life are affected by the neuromuscular disease, the general quality of life is quite good.The most prevalent and severe disability in total group and diagnosis-based subgroups is ‘impairments in muscle functions’.The most significant predictor in health-related quality of life is ‘impairments in mental functions and pain’.
Systematic review of techniques to enhance peak cough flow and maintain vital capacity in neuromuscular disease: the case for mechanical insufflation–exsufflation
Published in Physical Therapy Reviews, 2005
Jayne L. Anderson, Kirsteen M. Hasney, Nicola E. Beaumont
Patients with neuromuscular disease risk developing chest infections due to the inability to cough effectively and to maintain adequate lung volume. This systematic review aimed to evaluate the comparative effectiveness of techniques used in the respiratory management of these patients. Articles evaluating peak cough flow measurements and maintenance of lung volumes only were selected to retain a specific focus for comparison. A database search was performed using the Cochrane controlled register, AMED, Cinahl, Medline and PEDro. Various techniques improved cough efficacy in neuromuscular disease by increasing peak cough flow values and maintaining lung volume. Mechanical insufflation–exsufflation is a technique used to augment cough strength, producing the greatest increase in peak cough flow compared with other techniques. These findings highlight the treatment options for the patient with neuromuscular disease in order to maintain respiratory muscle length, prevent infection and augment peak cough flow.
Mechanical insufflation-exsufflation and available funding for Canadian adult patients. A Canadian Thoracic Society Position Statement
Published in Canadian Journal of Respiratory, Critical Care, and Sleep Medicine, 2021
Karla Horvey, Lacey Nairn Pederson, Marco Zaccagnini
Many neuromuscular disease patient populations suffer from a weak, inadequate cough, which may lead to respiratory tract infections, respiratory failure, and increased mortality. Hospitalized neuromuscular disease patients are often treated with a mechanical insufflation-exsufflation (MI-E) machine to improve lung volume, promote mucociliary clearance and improve their respiratory health. Many of these patients require MI-E within their homes to maintain the benefits achieved in hospitals. Currently, a resource paper that outlines provincial funding avenues for home MI-E machines does not exist. Accordingly, Canadian Respiratory Health Professionals (CRHP) Leadership Council members formed a working group to propose and collate recommendations and resources for using MI-E in neuromuscular populations at home.
Related Knowledge Centers
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