Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax
Neuromuscular diseases (NMDs) comprise a heterogeneous group of conditions characterized by extreme progressive muscle weakness leading to respiratory failure. Noninvasive mechanical ventilation (NIV) has emerged as a cornerstone in the management of respiratory complications associated with NMDs. This review aims to elucidate the role of NMV in respiratory function, improving quality of life, and prolonging survival in individuals with NMD. The physiological basis of respiratory impairment in NMDs, principles of NMV application, evidence supporting its efficacy, patient selection criteria, and potential challenges in its application are discussed.
{"title":"Enhancing respiratory function in neuromuscular disease: the role of non-invasive ventilation. A narrative review.","authors":"Paolo Banfi, Agata Alba Maria Domenica Buscemi, Elena Compalati, Martina Pisoni, Marco Mantero, Agata Lax","doi":"10.36185/2532-1900-506","DOIUrl":"10.36185/2532-1900-506","url":null,"abstract":"<p><p>Neuromuscular diseases (NMDs) comprise a heterogeneous group of conditions characterized by extreme progressive muscle weakness leading to respiratory failure. Noninvasive mechanical ventilation (NIV) has emerged as a cornerstone in the management of respiratory complications associated with NMDs. This review aims to elucidate the role of NMV in respiratory function, improving quality of life, and prolonging survival in individuals with NMD. The physiological basis of respiratory impairment in NMDs, principles of NMV application, evidence supporting its efficacy, patient selection criteria, and potential challenges in its application are discussed.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857300","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: Non-invasive ventilation use is increasing in patients from acute respiratory failure. However, nutritional assessment and medical nutritional therapy are often missed and patients may be frequently underfed. This review evaluates the tools for nutritional screening and assessment, assesses the use of medical nutritional therapy in various techniques of non invasive ventilation and suggested tools to improve this therapy.
Methods, results: A review of the literature was performed to evaluate the tools available to define malnutrition and determine the energy needs of patients requiring non invasive ventilation. Energy and protein intake was assessed in 16 recent papers. High Flow Nasal Cannula Oxygen therapy and non invasive ventilation using mask were described and nutritional therapy determined in each condition.
The Global Leadership International Malnutrition Assessment seems to be the best assessment to be recommended. Energy expenditure is optimally obtained by indirect calorimetry. Patients with Non invasive ventilation are even more underfed than patients receiving High Flow Nasal Cannula Oxygen therapy.
Conclusions: A better determination of malnutrition, a more adequate energy requirement and an improved energy and protein administration are required in patients with acute respiratory failure treated with non invasive ventilation.
{"title":"Nutrition therapy in non-intubated patients with acute respiratory failure: a narrative review.","authors":"Pierre Singer","doi":"10.36185/2532-1900-405","DOIUrl":"10.36185/2532-1900-405","url":null,"abstract":"<p><strong>Objectives: </strong>Non-invasive ventilation use is increasing in patients from acute respiratory failure. However, nutritional assessment and medical nutritional therapy are often missed and patients may be frequently underfed. This review evaluates the tools for nutritional screening and assessment, assesses the use of medical nutritional therapy in various techniques of non invasive ventilation and suggested tools to improve this therapy.</p><p><strong>Methods, results: </strong>A review of the literature was performed to evaluate the tools available to define malnutrition and determine the energy needs of patients requiring non invasive ventilation. Energy and protein intake was assessed in 16 recent papers. High Flow Nasal Cannula Oxygen therapy and non invasive ventilation using mask were described and nutritional therapy determined in each condition.</p><p><p>The Global Leadership International Malnutrition Assessment seems to be the best assessment to be recommended. Energy expenditure is optimally obtained by indirect calorimetry. Patients with Non invasive ventilation are even more underfed than patients receiving High Flow Nasal Cannula Oxygen therapy.</p><p><strong>Conclusions: </strong>A better determination of malnutrition, a more adequate energy requirement and an improved energy and protein administration are required in patients with acute respiratory failure treated with non invasive ventilation.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci
Introduction: Neuromuscular diseases (NMD) include different types of diseases depending on the deficient component of the motor unit involved. They may all be interested by a progressive and sometimes irreversible pump respiratory failure which unfortunately for some NMD may start soon after the diagnosis. Within this vast group of patients those affected by muscle diseases are a subgroup who comprises patients with an average earlier onset of symptoms compared to other NMD. Indeed it is also important to comprehend not just the patient's burden but also the surrounding families'. Defining the end of life (EoL) phase in these patients is not simple especially in the young patient population. Consequently, the late stage of disease remains poorly defined and challenging.
Objectives: The aim of this review is to describe the EoL phase in NMD patients with attention to QoL and psycological status.
Methods: The focus would be on one hand on the management of the psychological burden, the communication barriers, and tone of humor.
Results: Those topics have been described being crucial in this group of patients as they increase tensions and burden of both patient and family, and between them and the outside world. Thus also causing their social isolation, increasing anxiety and reducing their quality of life. On the other hand the use of cough clearance devices and all the respiratory supports and their withdrawn are carefully evaluated in the view of alleviating respiratory symptoms, improving patient quality of life and above all reaching the patient's goals of care.
Conclusions: Although there is no cure, the advent of supportive interventions including multidisciplinary care (MDC) has improved all the aspects of dying for patients affected by NMD; nevertheless there still a long pathway ahead.
{"title":"Concise review of end of life and palliative care in neuromuscular pathologies: still a long pathway ahead.","authors":"Maria Luisa de Candia, Antonietta Coppola, Gualtiero Ermando Romano, Giovanna Elisiana Carpagnano, Paola Pierucci","doi":"10.36185/2532-1900-431","DOIUrl":"10.36185/2532-1900-431","url":null,"abstract":"<p><strong>Introduction: </strong>Neuromuscular diseases (NMD) include different types of diseases depending on the deficient component of the motor unit involved. They may all be interested by a progressive and sometimes irreversible pump respiratory failure which unfortunately for some NMD may start soon after the diagnosis. Within this vast group of patients those affected by muscle diseases are a subgroup who comprises patients with an average earlier onset of symptoms compared to other NMD. Indeed it is also important to comprehend not just the patient's burden but also the surrounding families'. Defining the end of life (EoL) phase in these patients is not simple especially in the young patient population. Consequently, the late stage of disease remains poorly defined and challenging.</p><p><strong>Objectives: </strong>The aim of this review is to describe the EoL phase in NMD patients with attention to QoL and psycological status.</p><p><strong>Methods: </strong>The focus would be on one hand on the management of the psychological burden, the communication barriers, and tone of humor.</p><p><strong>Results: </strong>Those topics have been described being crucial in this group of patients as they increase tensions and burden of both patient and family, and between them and the outside world. Thus also causing their social isolation, increasing anxiety and reducing their quality of life. On the other hand the use of cough clearance devices and all the respiratory supports and their withdrawn are carefully evaluated in the view of alleviating respiratory symptoms, improving patient quality of life and above all reaching the patient's goals of care.</p><p><strong>Conclusions: </strong>Although there is no cure, the advent of supportive interventions including multidisciplinary care (MDC) has improved all the aspects of dying for patients affected by NMD; nevertheless there still a long pathway ahead.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305353/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino
The neuromuscular patients may experience the need for respiratory support due to the onset of respiratory failure. Some skills are essential to achieve therapeutic success. In addition to technical knowledge, it is essential to have knowledge relating to individual neuromuscular diseases. The availability of alternative respiratory supports and various interfaces can be a valuable weapon at different moments in the course of the neuromuscular disease. Furthermore, the doctor-patient relationship plays a key role as does taking care of the patient's psychological sphere.
{"title":"Indications and techniques of non-invasive ventilation (NIV) in neuromuscular diseases.","authors":"Anna Annunziata, Antonietta Coppola, Francesca Simioli, Lidia Atripaldi, Antonella Marotta, Antonio Esquinas, Giuseppe Fiorentino","doi":"10.36185/2532-1900-553","DOIUrl":"10.36185/2532-1900-553","url":null,"abstract":"<p><p>The neuromuscular patients may experience the need for respiratory support due to the onset of respiratory failure. Some skills are essential to achieve therapeutic success. In addition to technical knowledge, it is essential to have knowledge relating to individual neuromuscular diseases. The availability of alternative respiratory supports and various interfaces can be a valuable weapon at different moments in the course of the neuromuscular disease. Furthermore, the doctor-patient relationship plays a key role as does taking care of the patient's psychological sphere.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tiina Maarit Andersen, Lee Bolton, Michel Toussaint
Objectives: The functions of eating, drinking, speaking, and breathing demand close coordination of the upper airway musculature which may be challenged by the long-term use of daytime non-invasive ventilation (NIV). This rapid review explores the challenges and practicalities of these interactions in people with neuromuscular disorders.
Methods: A search was performed on PubMed (period 2000-2023) using generic terms to refer to eating, drinking, and speaking related to people with neuromuscular disorders on NIV. A narrative approach was used to summarize the available literature.
Results: Our review shows only a small number of studies exist exploring the use of NIV on swallowing and speaking in people with neuromuscular disorders. We summarize study findings and provide practical advice on eating, drinking and speaking with NIV.
Conclusions: By understanding breathing, NIV mechanics and upper airway interactions, it is possible to optimize swallowing and speaking whilst using NIV. There is a lack of specific guidelines, and concerns regarding aspiration warrant further research and guideline development.
{"title":"Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders.","authors":"Tiina Maarit Andersen, Lee Bolton, Michel Toussaint","doi":"10.36185/2532-1900-417","DOIUrl":"10.36185/2532-1900-417","url":null,"abstract":"<p><strong>Objectives: </strong>The functions of eating, drinking, speaking, and breathing demand close coordination of the upper airway musculature which may be challenged by the long-term use of daytime non-invasive ventilation (NIV). This rapid review explores the challenges and practicalities of these interactions in people with neuromuscular disorders.</p><p><strong>Methods: </strong>A search was performed on PubMed (period 2000-2023) using generic terms to refer to eating, drinking, and speaking related to people with neuromuscular disorders on NIV. A narrative approach was used to summarize the available literature.</p><p><strong>Results: </strong>Our review shows only a small number of studies exist exploring the use of NIV on swallowing and speaking in people with neuromuscular disorders. We summarize study findings and provide practical advice on eating, drinking and speaking with NIV.</p><p><strong>Conclusions: </strong>By understanding breathing, NIV mechanics and upper airway interactions, it is possible to optimize swallowing and speaking whilst using NIV. There is a lack of specific guidelines, and concerns regarding aspiration warrant further research and guideline development.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305350/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue.","authors":"Anna Annunziata, Giuseppe Fiorentino","doi":"10.36185/2532-1900-567","DOIUrl":"10.36185/2532-1900-567","url":null,"abstract":"","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11305351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141857302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-31eCollection Date: 2024-01-01DOI: 10.36185/2532-1900-402
Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona
Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research.
遗传性近端 5q 脊髓肌肉萎缩症(SMA)是一种严重的神经肌肉疾病,主要在婴儿期或儿童期发病。其基本致病机制是由于 SMN1 基因缺失导致存活运动神经元(SMN)蛋白缺乏,从而导致脊柱前角α运动神经元缺失。在临床上,SMA 的特征是肌肉力量和运动功能的进行性丧失,从极其严重的新生儿发病 1 型到成年后出现的轻度 4 型不等。所有临床变异型都有相同的分子缺陷,其差异主要取决于 SMN2 基因的拷贝数,SMN2 是一个与 SMN1 几乎相同的中心粒基因,其外显子 7 有一个独特的从 C 到 T 的转变,导致外显子 7 在转录后处理过程中被排除。在所有类型的 SMA 中,临床表现均以肌张力低下、乏力和肢体瘫痪为特征。公认的四种主要 SMA 类型的临床严重程度会有很大差异。对于大多数受不同神经肌肉疾病影响的患者来说,疲劳也是 SMA 患者的主要主诉,因为他们在日常活动中经常感到疲劳,并对整体生活质量产生负面影响。越来越多的人认识到,疲劳是神经肌肉疾病,尤其是 SMA 的一个重要损伤维度,这使疲劳成为一个相关的研究课题,并将其确定为一个基本的治疗目标。在这篇综述中,我们旨在概述当前有关这一问题的文献文章,以突出已知的内容和值得进一步研究的内容。
{"title":"Fatigue in Spinal Muscular Atrophy: a fundamental open issue.","authors":"Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona","doi":"10.36185/2532-1900-402","DOIUrl":"https://doi.org/10.36185/2532-1900-402","url":null,"abstract":"<p><p>Hereditary proximal 5q Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder with onset mainly in infancy or childhood. The underlying pathogenic mechanism is the loss of alpha motor neurons in the anterior horns of spine, due to deficiency of the survival motor neuron (SMN) protein as a consequence of the deletion of the SMN1 gene. Clinically, SMA is characterized by progressive loss of muscle strength and motor function ranging from the extremely severe, the neonatal onset type 1, to the mild type 4 arising in the adult life. All the clinical variants share the same molecular defect, the difference being driven mainly by the copy number of SMN2 gene, a centromeric gene nearly identical to SMN1 with a unique C to T transition in Exon 7 that results in exclusion of Exon 7 during post-transcriptional processing. In all the types of SMA the clinical picture is characterized by hypotonia, weakness and areflexia. Clinical severity can vary a lot between the four main recognized types of SMA. As for the most of patients affected by different neuromuscular disorders, also in SMA fatigability is a major complaint as it is frequently reported in common daily activities and negatively impacts on the overall quality of life. The increasing awareness of fatigability as an important dimension of impairment in Neuromuscular Disorders and particularly in SMA, is making it both a relevant subject of study and identifies it as a fundamental therapeutic target. In this review, we aimed to overview the current literature articles concerning this problem, in order to highlight what is known and what deserves further research.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997038/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140862238","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-27eCollection Date: 2024-01-01DOI: 10.36185/2532-1900-397
Corrado Angelini, Alicia Aurora Rodríguez
The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (AR) LGMD evaluated by INQoL. The locus for this form of LGMD with AD inheritance was found on chromosome 7, and then identification of the gene and its encoded protein (transportin-3) was obtained in 2013. A large three-generation family with several branches in Spain and Italy was previously reported and described in detail. Some patients had an early onset weakness, but others had an adult onset of the disease, as late as 58 years. The severity of the appearance of the phenotype is correlated with QoL and progresses with age. Assessing the impact on their QoL is particularly relevant to know whether the treatment is reducing their suffering.
在与疾病相关的概念中,生活质量(QOL)受多个疾病相关因素、支持、资源、期望和愿望的影响。个性化神经肌肉生活质量(INQoL)是根据肌肉疾病患者的经验开发的一种经过验证的肌肉疾病专用生活质量测量方法,可用于个人或大型群体。本报告对运输型肌病病例的 QoL 进行了回顾,报告了常染色体显性(AD)LGMD 的调整情况,并与通过 INQoL 评估的常染色体隐性(AR)LGMD 进行了比较。这种具有 AD 遗传性的 LGMD 的基因座位于第 7 号染色体上,并于 2013 年确定了该基因及其编码蛋白(转运蛋白-3)。此前曾报道并详细描述了一个三代同堂的大家庭,该家族在西班牙和意大利有多个分支。一些患者早年发病,但也有一些患者成年后才发病,最晚达到58岁。表型出现的严重程度与 QoL 相关,并随着年龄的增长而加重。评估对患者 QoL 的影响对于了解治疗是否减轻了他们的痛苦尤为重要。
{"title":"Assessment of the quality of life in patients with LGMD. The case of transportinopathy.","authors":"Corrado Angelini, Alicia Aurora Rodríguez","doi":"10.36185/2532-1900-397","DOIUrl":"https://doi.org/10.36185/2532-1900-397","url":null,"abstract":"<p><p>The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (AR) LGMD evaluated by INQoL. The locus for this form of LGMD with AD inheritance was found on chromosome 7, and then identification of the gene and its encoded protein (transportin-3) was obtained in 2013. A large three-generation family with several branches in Spain and Italy was previously reported and described in detail. Some patients had an early onset weakness, but others had an adult onset of the disease, as late as 58 years. The severity of the appearance of the phenotype is correlated with QoL and progresses with age. Assessing the impact on their QoL is particularly relevant to know whether the treatment is reducing their suffering.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140861072","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-21eCollection Date: 2024-01-01DOI: 10.36185/2532-1900-398
Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano
Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly unaffected because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the individual as an affected "symptomatic or manifesting carrier". Though there is no effective cure for DMD, therapies are available to slow the decline of muscle strength and delay the onset and progression of cardiac and respiratory impairment. These include ataluren for patients with nonsense mutations, and antisense oligonucleotides therapies, for patients with specific deletions. Symptomatic DMD female carriers are not included in these indications and little data documenting their management, often entrusted to the discretion of individual doctors, is present in the literature. In this article, we report the clinical and instrumental outcomes of four symptomatic DMD carriers, aged between 26 and 45 years, who were treated with ataluren for 21 to 73 months (average 47.3), and annually evaluated for muscle strength, respiratory and cardiological function. Two patients retain independent ambulation at ages 33 and 45, respectively. None of them developed respiratory involvement or cardiomyopathy. No clinical adverse effects or relevant abnormalities in routine laboratory values, were observed.
{"title":"Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study.","authors":"Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano","doi":"10.36185/2532-1900-398","DOIUrl":"https://doi.org/10.36185/2532-1900-398","url":null,"abstract":"<p><p>Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by dystrophin gene deletions (75%), duplications (15-20%) and point mutations (5-10%), a small portion of which are nonsense mutations. Women carrying dystrophin gene mutations are commonly <i>unaffected</i> because the wild X allele may produce a sufficient amount of the dystrophin protein. However, approximately 8-10% of them may experience muscle symptoms and 50% of those over 40 years develop cardiomyopathy. The presence of symptoms defines the individual as an affected \"<i>symptomatic</i> or <i>manifesting</i> carrier\". Though there is no effective cure for DMD, therapies are available to slow the decline of muscle strength and delay the onset and progression of cardiac and respiratory impairment. These include ataluren for patients with nonsense mutations, and antisense oligonucleotides therapies, for patients with specific deletions. Symptomatic DMD female carriers are not included in these indications and little data documenting their management, often entrusted to the discretion of individual doctors, is present in the literature. In this article, we report the clinical and instrumental outcomes of four symptomatic DMD carriers, aged between 26 and 45 years, who were treated with ataluren for 21 to 73 months (average 47.3), and annually evaluated for muscle strength, respiratory and cardiological function. Two patients retain independent ambulation at ages 33 and 45, respectively. None of them developed respiratory involvement or cardiomyopathy. No clinical adverse effects or relevant abnormalities in routine laboratory values, were observed.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997039/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140873814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-02-21eCollection Date: 2024-01-01DOI: 10.36185/2532-1900-411
Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Glycogen Storage Disease (GSD) IXd, caused by PHKA1 gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the GAA gene that lead to severe cardiac and skeletal muscle myopathy. We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16. At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles, reflexes not elicitable, and CK levels 3.6 times the upper reference limit. Next Generation Sequencing (NGS) identified one variant in the PHKA1 gene, c.1360A > G p.Ile454Val (exon 14) inherited by his mother, and two heterozygous variants in the GAA gene, c.784G > A (exon 4) and c.956-6T > C (exon 6). A review of GSD IXd cases reported to date in the literature is also provided.
{"title":"A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.","authors":"Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano","doi":"10.36185/2532-1900-411","DOIUrl":"https://doi.org/10.36185/2532-1900-411","url":null,"abstract":"<p><p>Glycogen Storage Disease (GSD) IXd, caused by <i>PHKA1</i> gene mutations, is an X-linked rare disorder that can be asymptomatic or associated with exercise intolerance. GSD type II is an autosomal recessive disorder caused by mutations in the <i>GAA</i> gene that lead to severe cardiac and skeletal muscle myopathy. We report the first case of co-occurrence of type IXd and type II GSDs in a 53-year-old man with an atypical glycogen storage disease presentation consisting in myalgia in the lower limbs at both rest and after exercise and increased levels of transaminases from the age of 16. At the age of 43, the patient presented a steppage gait, inability to run and walk on his heels, hypotrophy of the pectoral and proximal muscles, reflexes not elicitable, and CK levels 3.6 times the upper reference limit. Next Generation Sequencing (NGS) identified one variant in the <i>PHKA1</i> gene, c.1360A > G p.Ile454Val (exon 14) inherited by his mother, and two heterozygous variants in the <i>GAA</i> gene, c.784G > A (exon 4) and c.956-6T > C (exon 6). A review of GSD IXd cases reported to date in the literature is also provided.</p>","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10997040/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140870493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}