Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology最新文献_第2页

Practical recommendations for swallowing and speaking during NIV in people with neuromuscular disorders. 关于神经肌肉障碍患者在使用 NIV 时吞咽和说话的实用建议。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-06-01 DOI: 10.36185/2532-1900-417

Tiina Maarit Andersen, Lee Bolton, Michel Toussaint

{"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":"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.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 2","pages":"62-70"},"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}

引用次数: 0

Non-invasive mechanical ventilation in NeuroMuscular Disorders: Presentation of this special issue. 神经肌肉疾病中的无创机械通气：介绍本特刊。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-06-01 DOI: 10.36185/2532-1900-567

Anna Annunziata, Giuseppe Fiorentino

引用次数: 0

Fatigue in Spinal Muscular Atrophy: a fundamental open issue. 脊髓性肌肉萎缩症的疲劳：一个基本的未决问题。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-03-31 eCollection Date: 2024-01-01 DOI: 10.36185/2532-1900-402

Oscar Crisafulli, Angela Berardinelli, Giuseppe D'Antona

{"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":"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.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 1","pages":"1-7"},"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}

引用次数: 0

Assessment of the quality of life in patients with LGMD. The case of transportinopathy. 评估 LGMD 患者的生活质量。运输蛋白病

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-02-27 eCollection Date: 2024-01-01 DOI: 10.36185/2532-1900-397

Corrado Angelini, Alicia Aurora Rodríguez

{"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":"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.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 1","pages":"16-20"},"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}

引用次数: 0

Treatment with ataluren in four symptomatic Duchenne carriers. A pilot study. 对四名有症状的杜兴基因携带者进行阿塔卢仑治疗。试点研究。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-02-21 eCollection Date: 2024-01-01 DOI: 10.36185/2532-1900-398

Amir Dori, Marianna Scutifero, Luigia Passamano, Dario Zoppi, Lucia Ruggiero, Antonio Trabacca, Luisa Politano

{"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":"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.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 1","pages":"8-15"},"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}

引用次数: 0

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. 一名 53 岁男子罕见地同时患有磷酸化酶激酶缺乏症（GSD IXd 型）和α-糖苷酶缺乏症（GSD II 型），表现为非典型糖原贮积病表型。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2024-02-21 eCollection Date: 2024-01-01 DOI: 10.36185/2532-1900-411

Esther Picillo, Maria Elena Onore, Luigia Passamano, Vincenzo Nigro, Luisa Politano

{"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":"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.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"43 1","pages":"21-26"},"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}

引用次数: 0

Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation. 新型复合杂合子 FKRP 基因突变导致轻度肢腰肌营养不良症 R9 表型。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2023-12-31 eCollection Date: 2023-01-01 DOI: 10.36185/2532-1900-391

Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri

{"title":"Mild limb girdle muscular dystrophy R9 phenotype caused by novel compound heterozygous FKRP gene mutation.","authors":"Ikhlass Belhassen, Rita Menassa, Salma Sakka, Laurence Michel-Calemard, Nathalie Streichenberger, Dorra Ben Ayed, Nadia Bouattour, Mariem Dammak, Chokri Mhiri","doi":"10.36185/2532-1900-391","DOIUrl":"10.36185/2532-1900-391","url":null,"abstract":"Fukutin-related protein (FKRP) mutations cause a broad spectrum of muscular dystrophies, from a relatively mild limb-girdle muscular dystrophy type 9 (LGMDR9) to severe congenital muscular dystrophy (CMD). This study aims to report two siblings belonging to a non-consanguineous Tunisian family harboring a novel compound heterozygous FKRP variant and presenting a mild LGDMR9 phenotype. For mutation screening, massive parallel sequencing was performed, followed by Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) to validate the existence of the discovered variants. The absence of alpha-dystroglycan was determined by immunohistochemistry. Brain and thigh magnetic resonance imaging (MRI) were performed to detect thigh and brain abnormalities. The two siblings had a late age at onset and clinical examination showed that the pelvic girdles had a predominantly proximal and symmetrical distribution of weakness without cardiac or respiratory involvement. They both had a modified Gardner-Medwin Walton Scale mGMWS grade of 4 and a modified Rankin Scale (mRS) score of 1. The DNA sequencing revealed a novel deletion of exons 2 and 3 in one allele and a missense mutation c.1364C > A, which has been reported to be responsible for congenital muscular dystrophy and mental retardation on the second allele. The simultaneous presence of the two variations in the two cases suggests that the variants segregate with the pathophysiology.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 4","pages":"106-112"},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974934","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}

引用次数: 0

Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience. 对无义突变的杜氏肌肉萎缩症患者在丧失行动能力后继续使用阿塔卢仁进行治疗。个人经验。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2023-12-31 eCollection Date: 2023-01-01 DOI: 10.36185/2532-1900-396

Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco

{"title":"Continuitiy of care with ataluren in Duchenne Muscular Dystrophy patients with nonsense mutations after loss of ambulation. Personal experience.","authors":"Carlotta Spagnoli, Rachele Adorisio, Luca Bello, Adele D'Amico, Maria Grazia D'Angelo, Marika Pane, Martina Penzo, Pietro Riguzzi, Valeria Sansone, Andrea Vianello, Carlo Fusco","doi":"10.36185/2532-1900-396","DOIUrl":"https://doi.org/10.36185/2532-1900-396","url":null,"abstract":"Duchenne Muscular Dystrophy (DMD) includes predictable phases requiring dedicated standard treatments. Therapeutic strategies feature corticosteroids or the more recent gene therapy/stop codon read-through. Ataluren (Translarna®) is an oral drug promoting the readthrough of premature stop codons caused by nonsense mutation (nm) in order to produce full-length dystrophin. It was licensed by EMA in 2014 for ambulatory patients with nmDMD aged ≥ 5 years. Our aim is to report data on long-term ataluren use in Italian patients with nmDMD, with emphasis on continuity of the treatment after loss of ambulation (LoA). Four DMD patients aged between 16 and 24 years who lost ambulation between 12 and 14 years continued to take ataluren after LoA. The oldest patient, aged 24 years, is still taking a few steps. Even in those experiencing motor decline, PUL-test performances were stable and respiratory function satisfactory in all; two patients developed severe cardiomyopathy, stable in one. Therapeutic continuity with ataluren should be offered to all nmDMD patients after LoA given its favourable safety and efficacy profile. However, further research is recommended to identify additional clinically meaningful outcomes and treatment goals following LoA.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 4","pages":"118-122"},"PeriodicalIF":0.0,"publicationDate":"2023-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883323/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974931","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}

引用次数: 0

Long-read sequencing improves diagnostic rate in neuromuscular disorders. 长读测序提高了神经肌肉疾病的诊断率。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2023-12-20 eCollection Date: 2023-01-01 DOI: 10.36185/2532-1900-394

Rafaela Owusu, Marco Savarese

{"title":"Long-read sequencing improves diagnostic rate in neuromuscular disorders.","authors":"Rafaela Owusu, Marco Savarese","doi":"10.36185/2532-1900-394","DOIUrl":"10.36185/2532-1900-394","url":null,"abstract":"Massive parallel sequencing methods, such as exome, genome, and targeted DNA sequencing, have aided molecular diagnosis of genetic diseases in the last 20 years. However, short-read sequencing methods still have several limitations, such inaccurate genome assembly, the inability to detect large structural variants, and variants located in hard-to-sequence regions like highly repetitive areas. The recently emerged PacBio single-molecule real-time (SMRT) and Oxford nanopore technology (ONT) long-read sequencing (LRS) methods have been shown to overcome most of these technical issues, leading to an increase in diagnostic rate. LRS methods are contributing to the detection of repeat expansions in novel disease-causing genes (e.g., ABCD3, NOTCH2NLC and RILPL1 causing an Oculopharyngodistal myopathy or PLIN4 causing a Myopathy with rimmed ubiquitin-positive autophagic vacuolation), of structural variants (e.g., in DMD), and of single nucleotide variants in repetitive regions (TTN and NEB). Moreover, these methods have simplified the characterization of the D4Z4 repeats in DUX4, facilitating the diagnosis of Facioscapulohumeral muscular dystrophy (FSHD). We review recent studies that have used either ONT or PacBio SMRT sequencing methods and discuss different types of variants that have been detected using these approaches in individuals with neuromuscular disorders.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 4","pages":"123-128"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974933","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}

引用次数: 0

Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature. 双侧 SORD 基因突变导致骨骼肌受累：病例报告和文献综述。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2023-12-20 eCollection Date: 2023-01-01 DOI: 10.36185/2532-1900-323

Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis

{"title":"Skeletal muscle involvement in biallelic SORD mutations: case report and review of the literature.","authors":"Sara Massucco, Chiara Gemelli, Emilia Bellone, Alessandro Geroldi, Serena Patrone, Paola Mandich, Elena Scarsi, Elena Faedo, Lucio Marinelli, Tiziana Mongini, Monica Traverso, Serena Baratto, Angelo Schenone, Chiara Fiorillo, Marina Grandis","doi":"10.36185/2532-1900-323","DOIUrl":"https://doi.org/10.36185/2532-1900-323","url":null,"abstract":"Biallelic mutations in the sorbitol dehydrogenase (SORD) gene have been identified as a genetic cause of autosomal recessive axonal Charcot-Marie-Tooth disease 2 (CMT2) and distal hereditary motor neuropathy (dHMN). We herein review the main phenotypes associated with SORD mutations and report the case of a 16-year-old man who was referred to our outpatient clinic for a slowly worsening gait disorder with wasting and weakness of distal lower limbs musculature. Since creatine phosphokinase (CPK) values were persistently raised (1.5fold increased) and a Next-Generation Sequencing CMT-associated panel failed in identifying pathogenic variants, a muscle biopsy was performed with evidence of alterations suggestive of a protein surplus distal myopathy. Finally, Whole-Exome Sequencing (WES) identified two pathogenic SORD variants in the heterozygous state: c.458C > A (p.Ala153Asp) and c.757delG (p.Ala253Glnfs*27). This is an isolated report of compound heterozygosity for two SORD mutations associated with clinical and histological signs of skeletal muscle involvement, expanding the phenotypic expression of SORD mutations.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"42 4","pages":"113-117"},"PeriodicalIF":0.0,"publicationDate":"2023-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10883325/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139974935","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}

引用次数: 0