Retrospective Analysis of Efgartigimod Use in Patients with Double-seronegative Generalized Myasthenia Gravis: A Case Series
Myasthenia gravis (MG), an autoimmune disease caused by autoantibodies that target proteins at the neuromuscular junction (NMJ), leads to impairment in synaptic transmission at the NMJ, resulting in variable weakness and skeletal muscle fatigability in this disease [1]. MG is classified based on clinical phenotype and type of autoantibodies involved. Most patients (75% –80%) are seropositive for antibodies against acetylcholine receptor (AChR), which consist primarily of IgG1 and IgG3 subtypes; their binding reduces the number and function of AChRs. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 23, 2024 Category: Neurology Authors: Kazuhiro Horiuchi, Shuntaro Nakamura, Kazuki Yamada, Takashi Inoue, Kei Oiwa Tags: Case report Source Type: research
Long-term clinical follow-up of a family with Becker muscular dystrophy associated with a large deletion in the DMD gene
Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disease caused by mutations in the DMD gene that lead to an absence of functional dystrophin protein [1,2]. DMD affects 1 in 3,600 to 6,000 male neonates worldwide [3,4]. Patients with DMD typically experience motor delays and muscle weakness between 2 and 7 years of age and often have decreased upper limb function, lose ambulation, and become wheelchair-dependent in their early teens [5,6]. Most people with DMD die of cardiac or respiratory failure in their twenties or thirties [1,7,8]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 13, 2024 Category: Neurology Authors: Kay E Davies, Julie Vogt Tags: Case report Source Type: research
A rare complex structural variant of novel intragenic inversion combined with reciprocal translocation t(X;1)(p21.2;p13.3) in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the most common form of X-linked recessive muscular dystrophy caused by pathogenic variants in the dystrophin (DMD) gene (OMIM:#310200) [1]. Approximately 1 in 5000 live male births suffer from DMD [2]. The most common dystrophin mutations are deletions and duplications, followed by point mutations [3]. Conventional diagnostic techniques, such as multiplex ligation probe amplification (MLPA) or whole exome sequencing (WES), are typically used to detect pathogenic variants in the DMD gene. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 11, 2024 Category: Neurology Authors: Yaye Wang, Xinmei Wen, Xin-Ming Shen, Li Di, Yanan Sun, Yun Li, Shu Zhang, Qi Wen, Jingsi Wang, Jianying Duo, Yue Huang, Yan Lu, Min Xu, Min Wang, Hai Chen, Wenjia Zhu, Yuwei Da Tags: Case report Source Type: research
A Novel Deep Intronic Variant in LAMA2 Identified by RNA Sequencing
Laminin-211 is a heterotrimeric protein complex linking the muscle sarcolemma to the extracellular matrix and is composed of alpha2, beta1 and gamma1 chains. This protein is expressed in skeletal muscle, brain, and peripheral nerves [3]. LAMA2-related muscular dystrophy is caused by pathogenic variants of the alpha2 subunit of Laminin. Complete absence of Laminin-211 (also referred to as merosin) typically results in a severe phenotype and is caused by loss of function nonsense variants, while partial merosin deficiency has been reported to be caused by missense, splice site, and in-frame variants [4]. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 5, 2024 Category: Neurology Authors: Djurdja Djordjevic, Issa Alawneh, Kimberly Amburgey, Kyoko E. Yuki, Lianna G Kyriakopoulou, Vilma Navickiene, Jim Stavropoulos, Grace Yoon, James J Dowling, Hernan Gonorazky Source Type: research
Axial involvement as a prominent feature in SMPX-related distal myopathy
A 78-year-old man with no family history of neuromuscular conditions presented with slowly progressive lower limb weakness with bilateral foot drop started in his late 40s. After age 70 he developed proximal upper limb weakness with difficulties in raising his arms. On examination, he had severe bilateral weakness of ankle dorsiflexion, impairment in arm abduction (possible up to 80 degrees), and mild bilateral scapular winging. Strength in distal upper limb muscles was preserved. Serum CK level was mildly elevated, and EMG was consistent with a myopathy. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 3, 2024 Category: Neurology Authors: D. Salman, C. Bolano-Diaz, R. Muni-Lofra, K. Wong, M. Elseed, E Harris, J. Diaz-Manera, M. Guglieri, C. Marini-Bettolo, V. Straub, G. Tasca Tags: Picture of the month Source Type: research
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Source: Neuromuscular Disorders - April 1, 2024 Category: Neurology Source Type: research
Update in Neuromuscular Disorder Course announcement
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Source: Neuromuscular Disorders - April 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - April 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - April 1, 2024 Category: Neurology Source Type: research
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Source: Neuromuscular Disorders - April 1, 2024 Category: Neurology Source Type: research
Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’ - Response
We sincerely thank Atamanalp et al for their response to our publication and for sharing their valuable experience in the management of sigmoid volvulus. We agree that investigation should include CT and or MRI imaging in addition to X Ray. In our practice, we tend to use small bowel MRI since we get multiple pieces of information - about small bowel motility, about other intra-abdominal organs and of course colonic diameter. In Duchenne muscular dystrophy (DMD), a conservative approach with endoscopic decompression is preferred and may lead to a long-term resolution. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 23, 2024 Category: Neurology Authors: Luca Nart, Anton Emmanuel, Rosaline Quinlivan Tags: Letter to the Editor Source Type: research
Expanding the spectrum of LAM β2: Pierson Syndrome associated with neuromuscular junction disorder in two patients.
Muscle weakness and fatigability are common symptoms of congenital myasthenic syndrome (CMS), a group of genetic disorders that often manifests at or near birth or in early childhood. Pierson syndrome (PS) is a rare genetic condition that affects the kidneys and eyes. Renal involvement with tubulopathy is usually diagnosed at the age of 2 –4 years presented as nephrotic syndrome. Patients can still develop chronic renal failure [1–2]. The most characteristic ocular anomaly is microcoria [3]. The triad that represents ophthalmological complication includes ptosis, retinitis pigmentosa and cataract. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 22, 2024 Category: Neurology Authors: Freddy Paiz, Issa Alaweh, Elisa Nigro, Hernan D. Gonorazky Tags: Case report Source Type: research
Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects
Desmin, a 53kD muscle-specific intermediate filament (IF) protein in humans, is encoded by the DES gene (OMIM: 125660). Located at chromosome 9q35, DES has nine protein coding exons and translates to a protein of 470 amino acids. Structurally, desmin (Uniprot ID: P17661) has a head, alpha-helical rod and tail domains. The alpha-helical rod domain consists of four α-helical segments, 1A, 1B, 2A and 2B, interspersed by short polypeptide linkers (L1, L12, L2) [1]. As a key IF protein, desmin forms a crucial three-dimensional intracytoplasmic scaffold maintaining the structural and mechanical integrity of skeletal, cardiac an...
Source: Neuromuscular Disorders - March 22, 2024 Category: Neurology Authors: Kiran Polavarapu, Daniel O'Neil, Rachel Thompson, Sally Spendiff, Bevinahalli Nandeesh, Seena Vengalil, Akshata Huddar, Dipti Baskar, Gautham Arunachal, Ananthapadmanabha Kotambail, Saloni Bhatia, Seetam Kumar Tumulu, Leslie Matalonga, Ana T öpf, Steven Source Type: research
Comments on ‘Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series’
We read with interest the manuscript written by Nart et al. [1] on life-threatening bowel complications in four patients with Duchenne muscular dystrophy (DMD). Although colonic involvement arising from dysmotility generally causes chronic intestinal pseudo-obstruction (CIPO), which may mimic sigmoid volvulus (SV), complete colonic obstruction arising from SV is uncommon in patients with DMD [2]. According to an electronic search of the last 79-years ’ literature (between 1945 and 2024) in Web of Science database [3], among 1,285 reports on SV, the number of the patients with SV complicating DMD is less than five. (Sourc...
Source: Neuromuscular Disorders - March 21, 2024 Category: Neurology Authors: Sabri Selcuk Atamanalp, Esra Disci, Rifat Peksoz Source Type: research
Mycophenolate and methotrexate are better tolerated than azathioprine in myasthenia gravis
Myasthenia Gravis (MG) is an autoimmune disease, caused by autoantibodies directed against components of the neuromuscular junction, frequently causing disabling muscle weakness. Current treatment strategy usually involves initiating the acetylcholinesterase inhibitor pyridostigmine, and if this is not effective or tolerated, corticosteroids. Due to the high side-effect burden of steroids, steroid-sparing immunosuppressives are frequently utilized to maintain remission whilst allowing reduction of steroid dose. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - March 21, 2024 Category: Neurology Authors: Katherine C Dodd, Rohan Ahmed, Philip Ambrose, James KL Holt, Saiju Jacob, M Isabel Leite, James AL Miller, Pyae Phyo San, Jennifer Spillane, Stuart Viegas, Jon Sussman Tags: Research paper Source Type: research
