Camille Verebi, Roseline Caumes, Sandra Chantot-Bastaraud, Nathalie Deburgrave, Lucie Orhant, Nicolas Vaucouleur, Laurence Cuisset, Thierry Bienvenu, France Leturcq, Juliette Nectoux
Uniparental isodisomy is a condition where both chromosomes of a pair are inherited from one parental homologue. If a deleterious variant is present on the duplicated chromosome, its homozygosity can reveal an autosomal recessive disorder in the offspring of a heterozygous carrier. Limb-girdle muscular dystrophy (LGMD) R3 is an autosomal recessive inherited disease that is associated with alpha-sarcoglycan gene (SGCA) variants. We report the first published case of LGMDR3 due to a homozygous variant in SGCA unmasked by uniparental isodisomy...
March 15, 2023: Neuromuscular Disorders: NMD
Yong-Lan Tang, Zhe Ruan, Yue Su, Rong-Jing Guo, Ting Gao, Yu Liu, Huan-Huan Li, Chao Sun, Zhu-Yi Li, Ting Chang
Alteration in onset-age distribution in myasthenia gravis (MG) and its increasing prevalence among the elderly underscores the need for a better understanding of the clinical course of MG and the establishment of personalized treatment. In this study we reviewed the demographics, clinical profile, and treatment of MG. Based on onset age, eligible patients were classified as early-onset MG (onset age ≥18 and <50 years), late-onset MG (onset age ≥50 and <65 years), and very late-onset MG (onset age ≥65 years)...
March 4, 2023: Neuromuscular Disorders: NMD
Laura Llansó, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M Blamire, Pierre G Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W Day, Kristi J Jones, Diana X Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R Mendell, Volker Straub, Jordi Díaz-Manera
Dysferlinopathy is a muscle disease characterized by a variable clinical presentation and is caused by mutations in the DYSF gene. The Jain Clinical Outcome Study for Dysferlinopathy (COS) followed the largest cohort of patients (n=187) with genetically confirmed dysferlinopathy throughout a three-year natural history study, in which the patients underwent muscle function tests and muscle magnetic resonance imaging (MRI). We previously described the pattern of muscle pathology in this population and established a series of imaging criteria for diagnosis...
March 2, 2023: Neuromuscular Disorders: NMD
Antje Mevius, Lars Jöres, Jutta Biskup, Tanja Heidbrede, Milada Mahic, Thomas Wilke, Ulf Maywald, Sophie Lehnerer, Andreas Meisel
Myasthenia gravis (MG) is a rare, chronic autoimmune disease with symptoms of fluctuating muscular weakness and fatigability. The aim of this retrospective cohort study was to estimate the prevalence and incidence of MG in Germany, and to understand the burden of disease and treatment patterns, based on anonymized German claims data. Two patient samples were identified: (1) incident MG patients with newly onset disease between 2015 and 2019, and (2) prevalent MG patients in 2019. In total, 775 incident MG patients with a mean age of 66...
March 1, 2023: Neuromuscular Disorders: NMD
Anna Rostedt Punga, Elisabet Westerberg, Pernilla Åsenlöf
Although supervised aerobic and resistance training in a hospital setting was proven safe and beneficial for well-controlled myasthenia gravis (MG) patients, implementation of similar programs in the community has not been studied. We conducted a pragmatic open-label study at a large gym in Uppsala, Sweden. Seven patients with generalized MG were recruited to participate in an individualized, tailored exercise program, based on individual baseline status and personal goals, with a personal trainer. All patients completed the entire training period...
February 23, 2023: Neuromuscular Disorders: NMD
Ayca Burcu Kahraman, Yılmaz Yildiz, Hulya Gokmen-Ozel, Sibel Kadayifcilar, Serap Sivri
Early-onset long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency is a fatty acid β-oxidation disorder with a poor prognosis. Triheptanoin, an anaplerotic oil with odd-chain fatty acids can improve the disease course. The female patient presented here was diagnosed at the age of 4 months, and treatment was started as fat restriction, frequent feeding, and standard medium-chain triglyceride supplementation. In follow-up, she had frequent rhabdomyolysis episodes (∼8 per year). At the age of six, she had 13 episodes in 6 months, and triheptanoin was started as part of a compassionate use program...
February 19, 2023: Neuromuscular Disorders: NMD
Alba Segarra-Casas, Roger Collet, Lidia Gonzalez-Quereda, Ana Vesperinas, Marta Caballero-Ávila, Alvaro Carbayo, Jordi Díaz-Manera, María José Rodriguez, Eduard Gallardo, Pia Gallano, Montse Olivé
Nemaline myopathy (NEM) type 10, caused by biallelic mutations in LMOD3, is a severe congenital myopathy clinically characterized by generalized hypotonia and muscle weakness, respiratory insufficiency, joint contractures, and bulbar weakness. Here, we describe a family with two adult patients presenting mild nemaline myopathy due to a novel homozygous missense variant in LMOD3. Both patients presented mild delayed motor milestones, frequent falls during infancy, prominent facial weakness and mild muscle weakness in the four limbs...
February 15, 2023: Neuromuscular Disorders: NMD
Misawa Niki Ishii, Masato Nakashima, Hidenori Kamiguchi, Neta Zach, Ryosuke Kuboki, Rina Baba, Takeshi Hirakawa, Kazunori Suzuki, Maria Quinton
Duchenne muscular dystrophy (DMD) is the most severe form of muscular dystrophy that is caused by lack of dystrophin, a critical structural protein in skeletal muscle. DMD treatments, and quantitative biomarkers to assess the efficacy of potential treatments, are urgently needed. Previous evidence has shown that titin, a muscle cell protein, is increased in the urine of patients with DMD, suggesting its usefulness as a DMD biomarker. Here, we demonstrated that the elevated titin in urine is directly associated with the lack of dystrophin and urine titin responses to drug treatment...
February 13, 2023: Neuromuscular Disorders: NMD
R Barrois, C Barnerias, E Deladrière, V Leloup-Germa, B Tervil, F Audic, C Boulay, C Cances, P Cintas, J B Davion, C Espil-Taris, V Manel, Y Pereon, J Piarroux, S Quijano Roy, C Vuillerot, U Walther-Louvier, I Desguerre, C Gitiaux
Spinal muscular atrophy 1 (SMA1) is a severe early genetic disease with degeneration of motor neurons. Motor development is still suboptimal after gene replacement therapy in symptomatic patients. In this study, compound muscle action potential (CMAP) amplitudes were explored as predictors of motor recovery after gene therapy. Thirteen symptomatic SMA1 patients were prospectively included at the Necker Enfants Malades Hospital, Paris, France (Cohort 1) and 12 at the other pediatric neuromuscular reference centers of the French Filnemus network (Cohort 2)...
February 11, 2023: Neuromuscular Disorders: NMD
Valentina Damato, Gregorio Spagni, Gabriele Monte, Letizia Scandiffio, Paola Cavalcante, Nicole Zampetti, Marco Fossati, Silvia Falso, Renato Mantegazza, Alessandra Battaglia, Andrea Fattorossi, Amelia Evoli
In this study we employed a comprehensive immune profiling approach to determine innate and adaptive immune response to SARS-CoV-2 infection and mRNA vaccines in patients with myasthenia gravis receiving rituximab. By multicolour cytometry, dendritic and natural killer cells, B- and T-cell subsets, including T-cells producing IFN-γ stimulated with SARS-CoV-2 peptides, were analysed after infection and mRNA vaccination. In the same conditions, anti-spike antibodies and cytokines' levels were measured in sera...
February 11, 2023: Neuromuscular Disorders: NMD
Zahra Sadr, Aida Ghasemi, Mohammad Rohani, Afagh Alavi
In the NAD biosynthetic network, the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme fuels NAD as a co-substrate for a group of enzymes. Mutations in the nuclear-specific isoform, NMNAT1, have been extensively reported as the cause of Leber congenital amaurosis-type 9 (LCA9). However, there are no reports of NMNAT1 mutations causing neurological disorders by disrupting the maintenance of physiological NAD homeostasis in other types of neurons. In this study, for the first time, the potential association between a NMNAT1 variant and hereditary spastic paraplegia (HSP) is described...
February 8, 2023: Neuromuscular Disorders: NMD
Vinojini Vivekanandam, Rawan Jaibaji, Richa Sud, Rebecca Ellmers, Iwona Skorupinska, Louise Germaine, Natalie James, Sarah Holmes, Roope Mannikko, Dipa Jayaseelan, Michael G Hanna
We provide an up-to-date and accurate minimum point prevalence of genetically defined skeletal muscle channelopathies which is important for understanding the population impact, planning for treatment needs and future clinical trials. Skeletal muscle channelopathies include myotonia congenita (MC), sodium channel myotonia (SCM), paramyotonia congenita (PMC), hyperkalemic periodic paralysis (hyperPP), hypokalemic periodic paralysis (hypoPP) and Andersen- Tawil Syndrome (ATS). Patients referred to the UK national referral centre for skeletal muscle channelopathies and living in UK were included to calculate the minimum point prevalence using the latest data from the Office for National Statistics population estimate...
January 28, 2023: Neuromuscular Disorders: NMD
Marie Cheminelle, Marie-Christine Nougues, Arnaud Isapof, Guillaume Aubertin, Harriet Corvol, Nicole Beydon, Jessica Taytard
Myotonic dystrophy type 1 (DM1) is a rare neuromuscular disease in children causing sleep and respiratory disorders that are poorly described in the literature compared to adult forms. This retrospective observational study was performed at the Armand Trousseau University Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France. We retrospectively collected data from lung function tests, nocturnal gas exchange recordings, and polysomnography of 24 children with DM1. 39% of the children with DM1 reported respiratory symptoms indicative of sleep disordered breathing...
January 28, 2023: Neuromuscular Disorders: NMD
Alexandra Breukel, Raffaella Willmann, Kate Adcock, Alexandre Méjat, Ingeborg Meijer, Ana Ferreiro
No abstract text is available yet for this article.
January 27, 2023: Neuromuscular Disorders: NMD
Anna Sarkozy, Rosaline Quinlivan, John P Bourke, Alessandra Ferlini
No abstract text is available yet for this article.
January 12, 2023: Neuromuscular Disorders: NMD
Sarah Hoffmann, Patrick Waters, Leslie Jacobson, Markus Schuelke, Werner Stenzel, Tobias Ruck, Sophie Lehnerer, Frauke Stascheit, Corinna Preuße, Andreas Meisel
Autoantibody testing is the mainstay in confirming the diagnosis of autoimmune myasthenia gravis (MG). However, in approximately 15% of patients, antibody testing in clinical routine remains negative (seronegative MG). This study aimed at assessing the prevalence of "clustered" AChR- and MuSK- and LRP4- autoantibodies using a live cell-based assay in a large German cohort of seronegative myasthenia gravis (SNMG) patients. A total of 67 SNMG patients were included. Clustered AChR-ab were identified in 4.5% (n = 3) of patients...
January 6, 2023: Neuromuscular Disorders: NMD
Patrick Harrison, Joshua Barton, Antony Winkel
Myasthenia gravis often presents a diagnostic challenge and may be misdiagnosed, particularly in seronegative disease with active symptoms. We retrospectively evaluated 61 patients following the introduction of single fibre electromyography at our service, and identified 8 mimics which had been inappropriately diagnosed and treated as refractory myasthenia gravis. 6 of these were seronegative, but two had positive acetylcholine receptor (AChR) antibodies. The final diagnoses included one case each of chronic progressive external ophthalmoplegia, chronic ptosis, oculopharyngeal muscular dystrophy, and an undifferentiated disorder suspicious for either a mitochondrial cytopathy or low-grade myositis...
March 2023: Neuromuscular Disorders: NMD
Michael P Skolka, Pannathat Soontrapa, Divyanshu Dubey, William J Litchy, Mohamed M Rezk, Stephanie Gardon, Teerin Liewluck
No abstract text is available yet for this article.
March 2023: Neuromuscular Disorders: NMD
Jordi Díaz-Manera, J Andoni Urtizberea, Carina Schey, Anna Kole, Philipp von Gallwitz, Amy Whiting, Douglas Foerster, Alla Zozulya-Weidenfeller
Although mexiletine effectively treats myotonia, supply disruptions affected Europe between 2008-2018. MyoPath was a mixed-methods, cross-sectional, market research survey conducted January-June 2018 to evaluate consequences of limited access to/awareness of mexiletine in people with myotonia. Part A: qualitative structured interviews (clinicians; advocates for adult patients); Part B: quantitative online questionnaire completed by people with self-reported history of myotonia. Part A: Interviews (clinicians, n=12; patient advocates, n=5; 12 countries) indicated poor mexiletine awareness among general neurologists...
February 2023: Neuromuscular Disorders: NMD
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