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

Lifestyle and dietary measures in Periodic Paralyses. 周期性瘫痪患者的生活方式和饮食措施。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2026-03-01 DOI: 10.36185/2532-1900-2233

Luisa Politano

{"title":"Lifestyle and dietary measures in Periodic Paralyses.","authors":"Luisa Politano","doi":"10.36185/2532-1900-2233","DOIUrl":"10.36185/2532-1900-2233","url":null,"abstract":"Periodic paralyses (PPs) are rare skeletal muscle ion channelopathies caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs can be divided into primary periodic paralyses (PPPs) and secondary PPs by the aetiology. Secondary PPs are common in hyperthyroidism, primary aldosteronism, renal tubular acidosis, or be related to other causes such as medication intake or potassium loss from the digestive or renal systems. Both conditions are characterized by episodic flaccid muscle weakness.Primary PPs are classified as Hypokalemic Periodic Paralyse, (HypoPP), normokalemic periodic paralysis (NormoPP), Hyperkalemic Periodic Paralyses (HyperPP), and Andersen-Tawil Syndrome (ATS). Common features are autosomal dominant inheritance, typical onset in the first or second decades, and episodic attacks of flaccid weakness often triggered by diet or rest after exercise.The article focuses on the key role of potassium in promoting and/or preventing paralytic attacks and in avoiding them through appropriate dietary measures.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"45 1","pages":"9-13"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063345/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640872","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

Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases. 异铁蛋白病：摩洛哥系列28例的表型研究。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2026-03-01 DOI: 10.36185/2532-1900-1980

Najoua Mouloudi, Bouchra Kably, Sanae Sefiani, Nazha Birouk

{"title":"Dysferlinopathies: phenotypic study of a Moroccan series of 28 cases.","authors":"Najoua Mouloudi, Bouchra Kably, Sanae Sefiani, Nazha Birouk","doi":"10.36185/2532-1900-1980","DOIUrl":"10.36185/2532-1900-1980","url":null,"abstract":"Introduction: Dysferlinopathies are a spectrum of autosomal recessive muscular dystrophies caused by mutations in the dysferlin gene (DYSF), leading to heterogeneous phenotypes, mainly limb-girdle muscular dystrophy type 2R (LGMDR2) and Miyoshi distal myopathy (MMD1). In Morocco, dysferlinopathies accounted for 18% of all limb-girdle muscular dystrophies, ranking second after sarcoglycanopathies.Methods: We retrospectively analyzed 28 confirmed cases, diagnosed either by dysferlin deficiency or DYSF mutation.Results: The median age at examination was 25,5 years (21-33). Twelve patients (43%) were female, and 19 (68%) had consanguineous parents. The proximodistal phenotype was predominant (50%), followed by LGMDR2 (39%) and MMD1 (11%). Selective biceps brachii involvement was observed in 68% of patients. Seven patients (25%) showed hypertrophy of the extensor digitorum brevis muscle, and two (7%) presented with severe genu recurvatum. In addition to dystrophic lesions, muscle biopsy revealed inflammatory infiltrates in 15 cases (58%), leading to an initial misdiagnosis of inflammatory myopathy in two cases. Dysferlin deficiency confirmed the diagnosis in 26 cases, while two others had homozygous DYSF variants. Four patients received corticosteroids, with clear improvement in only one. Overall, disease progression was slow, although two patients lost ambulation at the ages of 26 and 32. Regular physical activity appeared to have a beneficial effect in most patients.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"45 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063349/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640876","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

Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre. 里斯地普兰治疗成年脊髓性肌萎缩症（SMA）。在一个肌肉中心进行24个月的真实体验。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2026-03-01 DOI: 10.36185/2532-1900-2280

Elia Cesarone, Esther Picillo, Marianna Scutifero, Luigia Passamano, Vincenzo Nigro

{"title":"Risdiplam therapy in adult patients with Spinal muscular Atrophy (SMA). A 24-month-real-world experience at a single muscular centre.","authors":"Elia Cesarone, Esther Picillo, Marianna Scutifero, Luigia Passamano, Vincenzo Nigro","doi":"10.36185/2532-1900-2280","DOIUrl":"10.36185/2532-1900-2280","url":null,"abstract":"Introduction: Treatment with Risdiplam has been recently extended to adult patients with Spinal Muscular Atrophy (SMA). We describe the experience of a single neuromuscular centre in Italy in treating adult SMA patients with risdiplam and analyze motor function during a follow-up period of 24 months.Patients and methods: Twelve patients with type 2 or 3 SMA (three with SMA type 3, five with SMA type 3a and four with type 3b, age range: 24-61) were included. Of them, nine were \"sitter\" and three were \"walker\"patients. The Revised Upper Limb Module (RULM) and the Hammersmith Functional Motor Scale Expanded (HFMSE) were recorded at baseline and every six months. Treatment adverse events were collected at every follow-up visit.Results: All the patients reached the 24-month follow-up. Based on the HFMSE score, 50% showed an improvement compared to the baseline total scores, 41,7% remained stable, and 8.3% experienced slight clinical worsening. Based on the RULM scores, the percentages were comparable: 50% demonstrated an improvement compared to the baseline total scores, 41,7% remained stable and 8,3% slight clinical worsening. The best results were observed in the patient \"walker\" group. The most common adverse events were transient gastro-intestinal problems and headache.Conclusions: Our study confirms that risdiplam is well tolerated. Half of the patients improved after risdiplam initiation and about 42% remained stable. Most patients stated to be satisfied with the medication. Longitudinal studies are needed to better understand the long-term effects of risdiplam in adult SMA.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"45 1","pages":"14-18"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640864","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

Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report. 8型肌纤原性肌病模拟肢带肌营养不良：突尼斯首例病例报告。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2026-03-01 DOI: 10.36185/2532-1900-2222

Mohamed Slim Majoul, Rania Zouari, Anis Hassine, Moncef Mokni, Samia Ben Sassi

{"title":"Myofibrillar myopathy type 8 mimicking a Limb-Girdle Muscle Dystrophy: the first Tunisian case report.","authors":"Mohamed Slim Majoul, Rania Zouari, Anis Hassine, Moncef Mokni, Samia Ben Sassi","doi":"10.36185/2532-1900-2222","DOIUrl":"10.36185/2532-1900-2222","url":null,"abstract":"Myofibrillar myopathy (MFM) type 8, caused by PYROXD1 gene variants, has recently been identified and has been rarely reported to date.Our aim was to report the first case of MFM type 8 from Tunisia with delayed diagnosis due to a non-specific clinical presentation.Results: A 36-year-old North-African male presented to our neurology department with a 15-year history of progressive muscle weakness leading to difficulty in walking and standing without dysphagia or facial weakness. His family history was unremarkable, with no similar cases reported. His medical history was insignificant, with no previous or current medication.Neurological examination noted symmetrical proximal motor deficit in all four limbs with calf pseudohypertrophy and hyporeflexia in lower limbs. Proximal muscular dystrophy was suspected. Normal levels of blood creatine kinase (CK) and lactate dehydrogenase were noted, and the immunological work-up was negative. A muscle biopsy of the anterior tibialis was performed, revealing a histopathological pattern consistent with proximal muscle dystrophy suggestive of Limb-Girdle Muscle Dystrophy (LGMD).Whole exome sequencing (WES) was performed, revealing a homozygous variant NM_024854.3: c.464A > G on the PYROXD1 gene. The diagnosis of MFM type 8 was retained, and physical therapy was prescribed. At 2-year follow-up, a slight worsening of motor deficit was observed, but his modified Rankin's scale remained stable at 3.Conclusions: We reported the first Tunisian case of MFM type 8 associated with a well-known pathogenic variant in the PYROXD1 gene. This case mimics LGMD with a moderate deficit and slow progression. MFM type 8 can present with different phenotypes, making the diagnosis difficult.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"45 1","pages":"25-29"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640866","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

Permanent weakness and myopathy in hypokalemic periodic paralysis. 低钾性周期性麻痹的永久性虚弱和肌病。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2026-03-01 DOI: 10.36185/2532-1900-1999

Maurizio Bossola, Annalisa Senatore, Enrico Di Stasio

{"title":"Permanent weakness and myopathy in hypokalemic periodic paralysis.","authors":"Maurizio Bossola, Annalisa Senatore, Enrico Di Stasio","doi":"10.36185/2532-1900-1999","DOIUrl":"10.36185/2532-1900-1999","url":null,"abstract":"Hypokalemic periodic paralysis (HypoPP) is a rare disease that consists of attacks of flaccid paralysis that often occur at night or early in the morning. Some patients with HypoPP may develop permanent muscle weakness and permanent myopathy. Four phenotypes of disease have been described: 1) no symptoms; 2) periodic paralysis and absence of permanent weakness; 3) periodic paralysis and permanent paralysis; 4) permanent weakness and absence of periodic paralysis. Vacuolar alterations are present in the muscles of all patients affected by HypoPP. In general, vacuoles are heterogeneous in size and content. Vacuoles are present in both fiber types and are not exclusive to any muscle fiber type, age, or phenotype. Generally, vacuoles contain glycogen but may also contain autophagosomes, fibrillar proteins, central nuclei, and myofiber invaginations. Magnetic resonance shows that fat accumulation of various extension is present in the muscle of patients with HypoPP. Water accumulation may also be present whereas atrophy is limited. Fat accumulation tends to increase with time together with a decrease of muscle strength. Permanent weakness and myopathy impairs significantly the quality of life. No treatment is currently available. The aim of this review is to define the characteristics and outcome of permanent weakness and myopathy in patients with HypoPP.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"45 1","pages":"19-24"},"PeriodicalIF":0.0,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13063346/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147640891","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

Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication. 杜氏肌营养不良症的脂肪栓塞综合征：一种未被诊断的并发症。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1707

Michele Tosi, Michela Catteruccia, Nicoletta Cantarutti, Daniela Perrotta, Adele D'Amico

{"title":"Fat embolism syndrome in Duchenne muscular dystrophy: an underdiagnosed complication.","authors":"Michele Tosi, Michela Catteruccia, Nicoletta Cantarutti, Daniela Perrotta, Adele D'Amico","doi":"10.36185/2532-1900-1707","DOIUrl":"10.36185/2532-1900-1707","url":null,"abstract":"Introduction: Fat embolism syndrome (FES) is a rare but potentially life-threatening complication of long bone fractures, typically described in high-energy trauma. In patients with Duchenne Muscular Dystrophy (DMD), even minor trauma can result in FES, owing to long-standing osteoporosis and prolonged corticosteroid therapy, and the recognition can be challenging.Materials and methods: We report a case series of three non-ambulatory patients with DMD who developed fat embolism syndrome following traumatic events. Clinical presentation, diagnostic challenges, and management strategies were retrospectively analyzed.Results: All three patients presented with features consistent with FES, with diagnostic difficulties related to atypical mechanisms of injury and overlapping neuromuscular symptoms. Timely supportive management led to favorable clinical outcomes in all cases.Discussion: These cases illustrate the critical need to closely consider FES in DMD patients who experience unexplained respiratory or neurological decline following trauma.Conclusion: Prompt recognition and a multidisciplinary approach are critical to minimizing morbidity and supporting recovery.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 4","pages":"121-125"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12958405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345954","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 case of focal myositis affecting the sternocleidomastoid muscle: diagnostic challenges and management strategies. 一个罕见的局灶性肌炎影响胸锁乳突肌：诊断挑战和管理策略。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1552

Nicola Molitierno, Mosè Parisi, Delia Gagliardi, Stefania Corti, Daniele Velardo

{"title":"A rare case of focal myositis affecting the sternocleidomastoid muscle: diagnostic challenges and management strategies.","authors":"Nicola Molitierno, Mosè Parisi, Delia Gagliardi, Stefania Corti, Daniele Velardo","doi":"10.36185/2532-1900-1552","DOIUrl":"10.36185/2532-1900-1552","url":null,"abstract":"Introduction: Focal myositis is a rare inflammatory disease characterised by localised involvement of a single muscle or muscle group. Involvement of the sternocleidomastoid muscle represents an extremely rare localisation.Materials and methods: We report the case of a 78-year-old woman who developed progressive left laterocervical swelling and pain following a respiratory infection. Extensive clinical and radiological investigations were performed; however, a definitive diagnosis was achieved only after muscle biopsy.Results: The patient initially responded to corticosteroid therapy but subsequently developed steroid dependence. For long-term disease control, methotrexate was introduced as a steroid-sparing agent. The clinical course was notable for recurrent disease exacerbations associated with fever.Discussion: This case presents several distinctive features, including occurrence in an elderly patient, the presence of fever during disease flares, and a steroid-dependent course requiring second-line immunosuppressive therapy. These aspects contribute to the diagnostic and therapeutic complexity of focal myositis, particularly in atypical localisations.Conclusion: Our experience highlights the diagnostic challenges associated with this rare entity and suggests that prolonged immunosuppressive treatment may be necessary in selected patients with focal myositis.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 4","pages":"126-129"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12959237/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147345912","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

3-Methyl Glutaconic Aciduria and Elevated Plasma Growth Differentiation Factor 15 Level in an Adult with Monoallelic SPG7 Pathogenic Variant. 成人单等位基因SPG7致病性变异的3-甲基戊二酸尿和血浆生长分化因子15水平升高

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1593

Bukola A Olarewaju, Ehab Y Harahsheh, Khaled I Dweik, Judy B Tejon, Shaymaa Shurrab, Stephen A Johnson, Dimitar K Gavrilov, Mayowa A Osundiji

引用次数: 0

Forty-five years of Acta Myologica: from the initiative of two myology dreamers to the reality of a scientific journal internationally recognized. 《肌学学报》的45年：从两位肌学梦想家的创举到如今成为国际公认的科学期刊。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1923

Luisa Politano

引用次数: 0

Combining traditional context and sailing in the psychological approach to patients with muscular dystrophies. A pilot study. 结合传统情境与帆船运动在肌营养不良症患者心理治疗中的应用。一项初步研究。

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology Pub Date : 2025-12-01 DOI: 10.36185/2532-1900-1750

Raffaella Manzo, Anna Annunziata, Simona Tozza, Francesca Simioli, Antonietta Coppola, Valentina Di Spirito, Tommaso Romano, Gennaro Calafiore, Spyridon Tsantis, Giuseppe Fiorentino

{"title":"Combining traditional context and sailing in the psychological approach to patients with muscular dystrophies. A pilot study.","authors":"Raffaella Manzo, Anna Annunziata, Simona Tozza, Francesca Simioli, Antonietta Coppola, Valentina Di Spirito, Tommaso Romano, Gennaro Calafiore, Spyridon Tsantis, Giuseppe Fiorentino","doi":"10.36185/2532-1900-1750","DOIUrl":"10.36185/2532-1900-1750","url":null,"abstract":"Introduction: Muscular diseases (MDs) are rare genetic conditions marked by progressive motor, cardiac, and respiratory decline, often accompanied by significant psychological and social challenges. Anxiety, depression and reduced quality of life (QoL) are common among individuals with MDs, highlighting the importance of integrating psychological assessment and support into multidisciplinary care. Although evidence on psychosocial interventions remains limited, emerging research suggests that nature-based therapeutic activities -particularly adapted sailing - can reduce anxiety and enhance psychological well-being in people with various disabilities. Recent studies indicate improvements in state anxiety, QoL, and respiratory perception associated with exposure to the marine environment.Patients and methods: Based on this evidence, the multidisciplinary team of the Naples NeMO Clinical Center developed the \"Anima Libera\" project, a sailing-based therapeutic program aimed at evaluating the psychological and clinical effects of an integrated intervention for individuals with muscular diseases.The project included 12 patients with different types of muscular dystrophies aged between 28 and 55 years.Results: All patients showed an improvement in psychological well-being and respiratory parameters.Discussion and conclusions: These data, although preliminary indicate that sailing could act as a complementary therapeutic tool within psychological support and rehabilitation programs for patients with muscle diseases.","PeriodicalId":93851,"journal":{"name":"Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology","volume":"44 4","pages":"130-134"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12958413/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147346012","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