Muscular Dystrophies

Astejada, Mina N.; Malicdan, May Christine V.; Nishino, Ichizo

doi:10.1016/b978-0-12-803678-5.00297-6

Cited by 1 publication

(2 citation statements)

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“…Duchenne muscular dystrophy (DMD) (MIM 310200) is a genetic neuromuscular disorder with X-linked inheritance caused by a pathogenic variant of the dystrophin gene leading to gradual muscle degeneration (1). It is characterised by progressive motor deficit, multisystemic complications and has no aetiological treatment (1,2).…”

Section: Introductionmentioning

confidence: 99%

“…Given the recent progress in our understanding of this condition, we now approach it from a multidisciplinary perspective while adhering to the global consensus of standards of care and therapy. The patient's life expectancy has dramatically enhanced as a result (1,2,4). While the average life expectancy was 22, patients born after 1990 should expect to live an average of 28.1 years (3).…”

Section: Introductionmentioning

confidence: 99%

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Respiratory pathology in a patient with muscular dystrophy

Voicu,

Lupu,

Scarlat

et al. 2022

Pneumologia

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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.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%