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
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
CONCLUSION: This report constitutes the first documented case of achieving a CMS-free offspring through PGT-M in a CMS-affected family. By broadening the known variant spectrum of RAPSN in the Chinese population, our findings underscore the feasibility and effectiveness of PGT-M for preventing CMS, offering valuable insights for similarly affected families.PMID:38511267 | DOI:10.1002/mgg3.2409 (Source: Molecular Medicine)
Source: Molecular Medicine - March 21, 2024 Category: Molecular Biology Authors: Zhiping Zhang Xueluo Zhang Huiqin Xue Liming Chu Lina Hu Xingyu Bi Pengfei Zhu Dongdong Zhang Jiayao Chen Xiangrong Cui Lingyin Kong Bo Liang Xueqing Wu Source Type: research
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
CONCLUSION: This report constitutes the first documented case of achieving a CMS-free offspring through PGT-M in a CMS-affected family. By broadening the known variant spectrum of RAPSN in the Chinese population, our findings underscore the feasibility and effectiveness of PGT-M for preventing CMS, offering valuable insights for similarly affected families.PMID:38511267 | PMC:PMC10955331 | DOI:10.1002/mgg3.2409 (Source: Molecular Medicine)
Source: Molecular Medicine - March 21, 2024 Category: Molecular Biology Authors: Zhiping Zhang Xueluo Zhang Huiqin Xue Liming Chu Lina Hu Xingyu Bi Pengfei Zhu Dongdong Zhang Jiayao Chen Xiangrong Cui Lingyin Kong Bo Liang Xueqing Wu Source Type: research
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN
ConclusionThis report constitutes the first documented case of achieving a CMS-free offspring through PGT-M in a CMS-affected family. By broadening the known variant spectrum ofRAPSN in the Chinese population, our findings underscore the feasibility and effectiveness of PGT-M for preventing CMS, offering valuable insights for similarly affected families. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - March 21, 2024 Category: Genetics & Stem Cells Authors: Zhiping Zhang,
Xueluo Zhang,
Huiqin Xue,
Liming Chu,
Lina Hu,
Xingyu Bi,
Pengfei Zhu,
Dongdong Zhang,
Jiayao Chen,
Xiangrong Cui,
Lingyin Kong,
Bo Liang,
Xueqing Wu Tags: ORIGINAL ARTICLE 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
Anti-titin antibodies in a cohort of myasthenia gravis patients
CONCLUSIONS: The presence of anti-titin antibodies appears to correlate with underlying thymoma in early-onset MG cases and with generalized MG in late-onset cases. Prospective studies are needed to further study this association.PMID:38505076 | PMC:PMC10944723 | DOI:10.21037/jtd-23-94 (Source: Journal of Thoracic Disease)
Source: Journal of Thoracic Disease - March 20, 2024 Category: Respiratory Medicine Authors: Jo ão Moura Ana Paula Sousa Raquel Sam ões Paula Carneiro Esmeralda Neves Ana Martins Silva Ernestina Santos Source Type: research
