Pathophysiology of respiratory failure in neuromuscular diseases

Chronic respiratory failure describes a clinical state when the arterial Po2 breathing air is less than 8.0 kPa, which may or may not be associated with hypercapnia (defined as Pco2 more than 6.0 kPa (45 mm Hg)). Four processes cause arterial hypoxaemia due to inefficient pulmonary gas exchange—ventilation–perfusion (V/Q) mismatch, hypoventilation, diffusion limitation, and true shunt, with the most important of these being V/Q mismatching. The arterial CO2 is increased by inadequate alveolar ventilation and/or V/Q abnormality. A wide range of disorders can cause chronic respiratory failure, with the commonest being chronic obstructive pulmonary disease, interstitial lung diseases, chest wall and neuromuscular diseases, and morbid obesity.

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Review of respiratory therapies in patients with spinal muscular atrophy

Perioperaciina Medicina ◽

10.31636/prmd.v1i1.2 ◽

2018 ◽

Vol 1 (1) ◽

pp. 10-17

Author(s):

V. Yu. Artemenko ◽

E. V. Plotna

Keyword(s):

Respiratory Failure ◽

Spinal Muscular Atrophy ◽

Motor Neurons ◽

Sleep Disturbances ◽

Muscular Atrophy ◽

Neuromuscular Diseases ◽

Respiratory Muscles ◽

Autosomal Recessive Inheritance ◽

Severe Form ◽

State Of Rest

The purpose of this article was to systematize available literary data and to provide general recommendations for respiratory therapy in patients with spinal muscular atrophy. Spinal muscular atrophy (SMA) is a severe neuromuscular disease with autosomal recessive inheritance with degeneration of alpha motor neurons in the anterior horns of the spinal cord, leading to progressive proximal muscle weakness and paralysis. SMN 1–2 genes potentially encode identical proteins, although most of the transcripts of the SMN1 genes are halfsized, whereas most transcripts of the SMN2 genes do not contain the seventh exon. Therefore, the SMN2 gene is only partially functional, and a low-level SMN protein is produced in SMA patients. Moreover, the number of copies of the SMN2 can not be considered an exact predictive factor for any particular patient. The main causes of mortality and deterioration in the quality of life are the development of secondary respiratory failure. Type 1 (a, b, c) is the heaviest: early onset and lack of motor abilities, usually patients with a disease of this type survive no more than 2 years. Type 2 – an intermediate type characterized by a later onset, the patient may take a sedentary position, survival may reach the adult height. Type 3 is the softest form that manifests itself at the age of 1 year, the patient can walk and stand. The forecast is more favorable. Type 4 “adult form” manifests itself at the age from 10 to 20 or from 20 to 30 years and has a favorable outlook. The main causes of respiratory failure in patients with neuromuscular diseases are weakness of the respiratory muscles, unproductive cough and sleep disturbances. The weakness of the respiratory muscles, defined as the inability of resting respiratory muscles in the state of rest to create a normal level of pressure and air flow velocity when entering and exhaling, is common. Patients with neuromuscular diseases are susceptible to sleep disruption, especially in the REM sleep phase, with the most frequent form of this disorder being hypoventilation. Over time, hypoventilation in a dream can become more prolonged, resulting in the development of a severe form of hypoxia, an increase in the level of carbon dioxide in the blood and the suppression of the activity of the respiratory center. Thus, as a result of the review of literary data, a strategy of respiratory support in patients with CMA was proposed.

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A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

JA Clinical Reports ◽

10.1186/s40981-020-00388-7 ◽

2020 ◽

Vol 6 (1) ◽

Author(s):

Noriaki Nishihara ◽

Shunsuke Tachibana ◽

Hajime Sonoda ◽

Michiaki Yamakage

Keyword(s):

Respiratory Failure ◽

Myotonic Dystrophy ◽

Delayed Diagnosis ◽

Neuromuscular Diseases ◽

Acute Onset ◽

Myotonic Dystrophy Type 1 ◽

Myotonic Dystrophy Type ◽

Case Presentation ◽

Multiple Organs

Abstract Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause. Case presentation A 62-year-old woman developed acute onset of dyspnea after showing hypertension and tachycardia and was transported to our hospital. On arrival at our institution, SpO2 was 80% with a non-rebreather mask. With a diagnosis of acute phase heart failure, she underwent tracheal intubation. However, weaning from the respirator was difficult in the intensive care unit (ICU). A detailed interview revealed that her brother was affected with myotonic dystrophy type 1. She was also diagnosed with myotonic dystrophy type 1 by a genetic test. Conclusions Taking a careful past and family history and prompt genetic testing is required on suspicion of neuromuscular diseases in a patient with respiratory failure by an unknown cause.

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Risk of unsuccessful noninvasive ventilation for acute respiratory failure in heterogeneous neuromuscular diseases: a retrospective study

Neurology International ◽

10.4081/ni.2017.6904 ◽

2017 ◽

Vol 9 (1) ◽

Author(s):

Hiroshi Kataoka ◽

Hitoki Nanaura ◽

Kaoru Kinugawa ◽

Yuto Uchihara ◽

Hiroya Ohara ◽

...

Keyword(s):

Mechanical Ventilation ◽

Amyotrophic Lateral Sclerosis ◽

Respiratory Failure ◽

Acute Respiratory Failure ◽

Clinical Course ◽

Neuromuscular Diseases ◽

Invasive Ventilation ◽

Noninvasive Mechanical Ventilation ◽

To Receive ◽

Lateral Sclerosis

If invasive ventilation can be avoided by performing noninvasive mechanical ventilation (NIV) in patients with acute respiratory failure (ARF), the disease can be effectively managed. It is important to clarify the characteristics of patients with neuromuscular diseases in whom initial NIV is likely to be unsuccessful. We studied 27 patients in stable neuromuscular condition who initially received NIV to manage fatal ARF to identify differences in factors immediately before the onset of ARF among patients who receive continuous NIV support, patients who are switched from NIV to invasive ventilation, and patients in whom NIV is discontinued. Endpoints were evaluated 24 and 72 hours after the initiation of NIV. After 24 hours, all but 1 patient with amyotrophic lateral sclerosis (ALS) received continuous NIV support. 72 hours later, 5 patients were switched from NIV to invasive ventilation, and 5 patients continued to receive NIV support. 72 hours after the initiation of NIV, the proportion of patients with a diagnosis of ALS differed significantly among the three groups (P=0.039). NIV may be attempted to manage acute fatal respiratory failure associated with neuromuscular diseases, but clinicians should carefully manage the clinical course in patients with ALS.

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Respiratory failure in neuromuscular diseases

Thorax ◽

10.1136/thx.26.5.579 ◽

1971 ◽

Vol 26 (5) ◽

pp. 579-584 ◽

Cited By ~ 27

Author(s):

B. D. W. Harrison ◽

J. V. Collins ◽

K. G. E. Brown ◽

T. J. H. Clark

Keyword(s):

Respiratory Failure ◽

Neuromuscular Diseases

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COVID-19 as the trigger for respiratory failure in neuromuscular diseases

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x-anp-2020-0469 ◽

2021 ◽

Vol 79 (3) ◽

pp. 264-265

Author(s):

Marta Rodrigues de CARVALHO ◽

Beatriz Schmidt DAL BERTO ◽

Priscila Leite SANTOS ◽

Guilherme Coelho de AZEVEDO ◽

Rubens Nelson Morato FERNANDEZ ◽

...

Keyword(s):

Respiratory Failure ◽

Neuromuscular Diseases

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One in five patients with Duchenne muscular dystrophy dies from other causes than cardiac or respiratory failure

European Journal of Epidemiology ◽

10.1007/s10654-021-00819-4 ◽

2021 ◽

Author(s):

Lisa Wahlgren ◽

Anna-Karin Kroksmark ◽

Mar Tulinius ◽

Kalliopi Sofou

Keyword(s):

Respiratory Failure ◽

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Life Expectancy ◽

Cause Of Death ◽

Causes Of Death ◽

Neuromuscular Diseases ◽

Adult Patients ◽

Gastrointestinal Complications ◽

National Quality

AbstractDuchenne muscular dystrophy (DMD) is a severe neuromuscular disorder with increasing life expectancy from late teens to over 30 years of age. The aim of this nationwide study was to explore the prevalence, life expectancy and leading causes of death in patients with DMD in Sweden. Patients with DMD were identified through the National Quality Registry for Neuromuscular Diseases in Sweden, the Swedish Registry of Respiratory Failure, pathology laboratories, neurology and respiratory clinics, and the national network for neuromuscular diseases. Age and cause of death were retrieved from the Cause of Death Registry and cross-checked with medical records. 373 DMD patients born 1970–2019 were identified, of whom 129 patients deceased during the study period. Point prevalence of adult patients with DMD on December 31st 2019 was 3.2 per 100,000 adult males. Birth prevalence was 19.2 per 100,000 male births. Median survival was 29.9 years, the leading cause of death being cardiopulmonary in 79.9% of patients. Non-cardiopulmonary causes of death (20.1% of patients) mainly pertained to injury-related pulmonary embolism (1.3 per 1000 person-years), gastrointestinal complications (1.0 per 1000 person-years), stroke (0.6 per 1000 person-years) and unnatural deaths (1.6 per 1000 person-years). Death from non-cardiopulmonary causes occurred at younger ages (mean 21.0 years, SD 8.2; p = 0.004). Age at loss of independent ambulation did not have significant impact on overall survival (p = 0.26). We found that non-cardiopulmonary causes contribute to higher mortality among younger patients with DMD. We present novel epidemiological data on the increasing population of adult patients with DMD.

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