Management of Patients with Neuromuscular Disease
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This article has been cited by other articles in PMC. Abstract Neuromuscular ventilatory weakness can be difficult to recognize because the symptoms can be nocturnal, nonspecific, or attributed to other conditions.
Abstract Neuromuscular ventilatory weakness can be difficult to recognize because the symptoms can be nocturnal, nonspecific, or attributed to other conditions. DMD care considerations working group. Opportunities that could offset these challenges and promote optimal patient outcomes include widening the use of genetic testing, increasing the use of patient registries, data hubs and other ways to centralize data, and the adoption of technologies for remote appointments and real-time monitoring. In patients with neuromuscular diseases, oxygen should never be used without appropriate ventilatory support. Medical Therapies and Research 3. Neuromuscular diseases affect alveolar air exchange and therefore cause chronic respiratory failure.
Keywords: respiratory failure, hereditary myopathy, amyotrophic lateral sclerosis, myopathy, noninvasive ventilation. Introduction Patients with neuromuscular disease may develop respiratory failure on account of weakness of respiratory muscles diaphragm and accessory muscles of respiration , hypotonia of bulbar muscles, coexistent anatomical abnormalities scoliosis or rigid spine , and decreased central respiratory drive.
Differential diagnosis and investigation of respiratory muscle weakness according to clinical presentation Patients presenting with respiratory muscle weakness will typically have nocturnal symptoms including orthopnea, sleep disruption, and headache upon awakening. Table 1 Approach to diagnostic investigations. Open in a separate window. Bulbar symptoms These patients should have careful neurologic examination, neurophysiology nerve-conduction studies and electromyography , and acetylcholine-receptor antibody testing, to consider the possibility of MG or amyotrophic lateral sclerosis ALS.
Myasthenia gravis MG is an autoimmune disease of the neuromuscular junction causing weakness of skeletal muscles. Amyotrophic lateral sclerosis In ALS, this condition, causing degeneration of motor neurons in the brain and spinal cord, invariably progresses to cause weakness of respiratory muscles.
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Ophthalmoplegia and ptosis These patients should be investigated as for MG. Oculopharyngodistal myopathy This condition is associated with both autosomal dominant and recessive inheritance, and the genetic etiology is unknown. Mitochondrial myopathy MM has only rarely been associated with early respiratory muscle weakness in selected cases with mitochondrial transfer-RNA mutations.
Proximal myopathy Pompe disease The condition to consider first is adult-onset Pompe disease glycogen storage disease type II , which may be rapidly screened with dried blood-spot testing for GAA-enzyme activity. Inflammatory myopathy If Pompe disease is not identified, other rare causes for proximal myopathy with respiratory failure should be considered. Limb-girdle muscular dystrophy Limb-girdle muscular dystrophies are a group of hereditary muscle diseases that typically do not have early involvement of respiratory muscles.
Management of Patients with Neuromuscular Disease
Other myopathies Muscle biopsy is required to identify other rare diagnostic possibilities, such as mitochondrial abnormalities for MM , dystrophic abnormalities suggesting limb-girdle muscular dystrophy , nemaline pathology for adult-onset nemaline myopathy , 26 or fiber-type disproportion which can be seen in TPM3 myopathy. Distal myopathy Inclusion-body myopathy Inclusion body myopathy IBM is an adult-onset myopathy that has recently been associated with respiratory failure.
Myotonic dystrophy type I Myotonic dystrophy type I has a highly variable phenotype, and may come to medical attention at any age. Titinopathy and myofibrillar myopathy Hereditary myopathy with early respiratory failure HMERF is an adult-onset autosomal-dominant myopathy. Other conditions Multifocal motor neuropathy is an autoimmune motor neuropathy preferentially involving the distal upper limbs.
Screening and follow-up of patients at risk of developing respiratory muscle weakness Early identification of respiratory muscle weakness is desirable, given the availability of therapies that have been shown to improve survival and quality of life. Table 2 Assessment for respiratory muscle weakness. Assessment Clinical history Physical exam Pulmonary function testing Sleep testing Thoracic imaging Bulbar weakness Aspiration, drooling, voice change, post prandial cough Change in appearance, drooling Difficulty with testing due to poor mouth seal.
False low values. Abbreviation: REM, rapid eye movement. The clinical interview During the clinical interview, bulbar symptoms should be assessed. Physical examination The physical exam of the respiratory system should begin with a general impression of patient posture, appearance, and affect. Pulmonary function testing Baseline testing should include assessment of spirometry, lung volume, diffusion capacity, and arterial, arterialized venous, or capillary blood-gas testing.
Sleep testing Either overnight oximetry or polysomnography has been described in this population. Imaging Thoracic imaging may be helpful in excluding underlying cardiopulmonary diseases. Long-term management of established neuromuscular weakness Once a diagnosis of respiratory muscle weakness has been made, supportive respiratory therapy should be initiated, even if the underlying neurological diagnosis is pending.
Role of invasive ventilation Patients with copious secretions or unable to tolerate NIV but wishing to prolong life may be considered for invasive ventilation via tracheostomy. Cough assist Once FVC has begun to fall, patients are at risk of developing atelectasis with loss of lung compliance. Respiratory muscle training Respiratory muscle training is an area of interest, but is not supported by many studies, and is still considered experimental by expert guidelines.
Conclusion Early recognition of the clinical symptoms and signs of neuromuscular respiratory failure aids in the diagnosis and management of patients with the aforementioned rare chronic muscle diseases. Footnotes Disclosure The authors report no conflicts of interest in this work.
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