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A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report

Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, alt...

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Autores principales: Oros, Mihaela, Baranga, Lucica, Glangher, Adelina, Adina-Diana, Moldovan, Jugulete, Gheorghita, Pavelescu, Carmen, Mihaltan, Florin, Plaiasu, Vasilica, Gheorghe, Dan Cristian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672723/
https://www.ncbi.nlm.nih.gov/pubmed/38003892
http://dx.doi.org/10.3390/jpm13111577
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author Oros, Mihaela
Baranga, Lucica
Glangher, Adelina
Adina-Diana, Moldovan
Jugulete, Gheorghita
Pavelescu, Carmen
Mihaltan, Florin
Plaiasu, Vasilica
Gheorghe, Dan Cristian
author_facet Oros, Mihaela
Baranga, Lucica
Glangher, Adelina
Adina-Diana, Moldovan
Jugulete, Gheorghita
Pavelescu, Carmen
Mihaltan, Florin
Plaiasu, Vasilica
Gheorghe, Dan Cristian
author_sort Oros, Mihaela
collection PubMed
description Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collagen VI-related myopathy are at risk of restrictive lung disease and sleep-disordered breathing due to the development of scoliosis associated with neuromuscular weakness. Typical signs of respiratory failure are not always present, and some patients are unaware that their respiratory muscles have become weaker. Here, we report a case of an intermediate form of collagen VI-related myopathy confirmed by next-generation sequencing. The girl presented morning headache, irritability, and aggressiveness, and because of these main symptoms, she was referred by the neurologist for respiratory evaluation. The result of spirometry was associated with hypoventilation shown during sleep studies, indicating the necessity to initiate home non-invasive ventilation (NIV) with immediate improvement in the symptoms. Neuromuscular disorders (NMDs) have a great impact on sleep, but only very few studies evaluating sleep quality in young patients with collagen VI-related myopathy have been described. Daytime symptoms of sleep-disordered breathing may include irritability, emotional lability, and poor attentiveness, but these can be overseen by the severity of other complex medical problems in patients with collagen VI-related myopathy. We underline the importance of the close monitoring of respiratory function, sleep evaluation, and decision making to support the NIV treatment of other collagen VI-related myopathy variant-specific patients. Early recognition of sleep disturbances and initiation of respiratory support can preserve or enhance the quality of life for patients and their caregivers. Routine screening for identification of emotional distress should be instituted in the clinical practice using validated psychological measures in a multidisciplinary approach with different intervention strategies for both patient and parent when necessary.
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spelling pubmed-106727232023-11-04 A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report Oros, Mihaela Baranga, Lucica Glangher, Adelina Adina-Diana, Moldovan Jugulete, Gheorghita Pavelescu, Carmen Mihaltan, Florin Plaiasu, Vasilica Gheorghe, Dan Cristian J Pers Med Article Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened, requiring mechanical ventilation, particularly during sleep. Individuals with collagen VI-related myopathy are at risk of restrictive lung disease and sleep-disordered breathing due to the development of scoliosis associated with neuromuscular weakness. Typical signs of respiratory failure are not always present, and some patients are unaware that their respiratory muscles have become weaker. Here, we report a case of an intermediate form of collagen VI-related myopathy confirmed by next-generation sequencing. The girl presented morning headache, irritability, and aggressiveness, and because of these main symptoms, she was referred by the neurologist for respiratory evaluation. The result of spirometry was associated with hypoventilation shown during sleep studies, indicating the necessity to initiate home non-invasive ventilation (NIV) with immediate improvement in the symptoms. Neuromuscular disorders (NMDs) have a great impact on sleep, but only very few studies evaluating sleep quality in young patients with collagen VI-related myopathy have been described. Daytime symptoms of sleep-disordered breathing may include irritability, emotional lability, and poor attentiveness, but these can be overseen by the severity of other complex medical problems in patients with collagen VI-related myopathy. We underline the importance of the close monitoring of respiratory function, sleep evaluation, and decision making to support the NIV treatment of other collagen VI-related myopathy variant-specific patients. Early recognition of sleep disturbances and initiation of respiratory support can preserve or enhance the quality of life for patients and their caregivers. Routine screening for identification of emotional distress should be instituted in the clinical practice using validated psychological measures in a multidisciplinary approach with different intervention strategies for both patient and parent when necessary. MDPI 2023-11-04 /pmc/articles/PMC10672723/ /pubmed/38003892 http://dx.doi.org/10.3390/jpm13111577 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Oros, Mihaela
Baranga, Lucica
Glangher, Adelina
Adina-Diana, Moldovan
Jugulete, Gheorghita
Pavelescu, Carmen
Mihaltan, Florin
Plaiasu, Vasilica
Gheorghe, Dan Cristian
A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title_full A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title_fullStr A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title_full_unstemmed A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title_short A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
title_sort diagnostic challenge in an adolescent with collagen vi-related myopathy and emotional disorder—case report
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672723/
https://www.ncbi.nlm.nih.gov/pubmed/38003892
http://dx.doi.org/10.3390/jpm13111577
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