<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder with X-linked inheritance, characterised by progressive motor deficit, causing loss of the ability to walk and multisystemic complications. Currently, there is no known aetiologic treatment for DMD which seeks to remove or correct its cause. Progressive respiratory muscle damage associates thoracic deformities, and ineffective cough, which leads to significant complications such as hypoventilation, nocturnal desaturation and chronic respiratory failure. Respiratory impairment represents the major cause of mortality in patients with muscular dystrophy. This highlights the importance of early and correct management of this illness. We present the case of a 17-year-old patient, genetically diagnosed with DMD at the age of 5 years that became non-ambulant at the age of 12. He had complications such as iatrogenic Cushing syndrome, anxiety, depressive disorder, mild cardiac dysfunction, severe restrictive respiratory dysfunction, nocturnal hypercapnia and sleep apnoea syndrome treated with BiLevel Positive Airway Pressure Spontaneous/Timed Therapy (BiPAP-ST). In evolution, it was decided to perform a tracheostomy and quasi-permanent ventilation. The clinical and paraclinical presentation of this patient is typical of that of an advanced stage of DMD, with progressive aggravation in the past years, despite the correct multidisciplinary management, following the international care standard of this disease. The particularity of the case is based on the complexity of all the comorbidities associated with the disease and the impact they have on the mental health of the patient, leading to the degradation of his general state. Having limited respiratory function, the patient died secondary to a tracheostomy tube complication. These complications represent a major cause of mortality in patients with neuromuscular disorders. An early and correct management of the respiratory tract pathology of these patients is essential for improving their quality of life and increasing their life span.</p>
</abstract>

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder with X-linked inheritance, characterised by progressive motor deficit, causing loss of the ability to walk and multisystemic complications. Currently, there is no known aetiologic treatment for DMD which seeks to remove or correct its cause. Progressive respiratory muscle damage associates thoracic deformities, and ineffective cough, which leads to significant complications such as hypoventilation, nocturnal desaturation and chronic respiratory failure. Respiratory impairment represents the major cause of mortality in patients with muscular dystrophy. This highlights the importance of early and correct management of this illness. We present the case of a 17-year-old patient, genetically diagnosed with DMD at the age of 5 years that became non-ambulant at the age of 12. He had complications such as iatrogenic Cushing syndrome, anxiety, depressive disorder, mild cardiac dysfunction, severe restrictive respiratory dysfunction, nocturnal hypercapnia and sleep apnoea syndrome treated with BiLevel Positive Airway Pressure Spontaneous/Timed Therapy (BiPAP-ST). In evolution, it was decided to perform a tracheostomy and quasi-permanent ventilation. The clinical and paraclinical presentation of this patient is typical of that of an advanced stage of DMD, with progressive aggravation in the past years, despite the correct multidisciplinary management, following the international care standard of this disease. The particularity of the case is based on the complexity of all the comorbidities associated with the disease and the impact they have on the mental health of the patient, leading to the degradation of his general state. Having limited respiratory function, the patient died secondary to a tracheostomy tube complication. These complications represent a major cause of mortality in patients with neuromuscular disorders. An early and correct management of the respiratory tract pathology of these patients is essential for improving their quality of life and increasing their life span.

Respiratory pathology in a patient with muscular dystrophy

Clinical Neurosciences Department, Peadiatric Neurology, Faculty of Medicine

Carol Davila University of Medicine and Pharmacy

Pneumologia

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Respiratory pathology in a patient with muscular dystrophy"}

Duchenne muscular dystrophy (DMD) is a genetic neuromuscular disorder with X-linked inheritance, characterised by progressive motor deficit, causing loss of...

Respiratory pathology in a patient with muscular dystrophy

Publié en ligne: 17 oct. 2023

Pages: 81 - 88

DOI: https://doi.org/10.2478/pneum-2023-0025

Mots clés
Duchennemusculardystrophy, respiratorycomorbidities, neuromuscular

© 2022 Alexandra-Cristiana Voicu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Respiratory pathology in a patient with muscular dystrophy

Publié en ligne: 17 oct. 2023

Pages: 81 - 88

DOI: https://doi.org/10.2478/pneum-2023-0025

Mots clésDuchenne­muscular­dystrophy, respiratory­comorbidities, neuromuscular

© 2022 Alexandra-Cristiana Voicu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Mots clés
Duchennemusculardystrophy, respiratorycomorbidities, neuromuscular