Browsing by Author "Wenninger, Stephan"

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    Hypoventilation syndrome in neuromuscular disorders.
    (Current opinion in neurology, 2021-10) Wenninger, Stephan; Jones, Harrison N

    Purpose of review

    Hypoventilation syndrome in neuromuscular disorders (NMDs) is primarily due to respiratory muscle weakness and results in increased morbidity and mortality. This article highlights current aspects of neuromuscular hypoventilation syndrome, including pathophysiology, clinical symptoms, assessment, respiratory involvement in various NMD, and causal and symptomatic treatments with an emphasis on recent research and advances.

    Recent findings and summary

    New therapeutic agents have been developed within the last years, proving a positive effect on respiratory system. Symptomatic therapies, including mechanical ventilation and cough assistance approaches, are important in NMD and respiratory muscle training may have benefit in strengthening respiratory muscles and should be offered patients with respiratory muscle weakness the same way as physiotherapy. Correct respiratory assessments and their correct interpretation are hallmarks for early diagnosis of hypoventilation syndrome and treatment.
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    Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
    (International journal of molecular sciences, 2016-10) Boentert, Matthias; Prigent, Hélène; Várdi, Katalin; Jones, Harrison N; Mellies, Uwe; Simonds, Anita K; Wenninger, Stephan; Barrot Cortés, Emilia; Confalonieri, Marco
    Pompe disease is an autosomal-recessive lysosomal storage disorder characterized by progressive myopathy with proximal muscle weakness, respiratory muscle dysfunction, and cardiomyopathy (in infants only). In patients with juvenile or adult disease onset, respiratory muscle weakness may decline more rapidly than overall neurological disability. Sleep-disordered breathing, daytime hypercapnia, and the need for nocturnal ventilation eventually evolve in most patients. Additionally, respiratory muscle weakness leads to decreased cough and impaired airway clearance, increasing the risk of acute respiratory illness. Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. Practical knowledge of how to detect, monitor and manage respiratory muscle involvement is crucial for optimal patient care. A multidisciplinary approach combining the expertise of neurologists, pulmonologists, and intensive care specialists is needed. Based on the authors' own experience in over 200 patients, this article conveys expert recommendations for the diagnosis and management of respiratory muscle weakness and its sequelae in late-onset Pompe disease.