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Delayed diagnosis of distal myasthenia gravis: a case report.
J Med Case Rep
November 2024
Department of Neurology, General Hospital of Ningxia Medical University, Yinchuan, 750001, China.
Introduction: Myasthenia gravis, which initially presents with prominent distal muscle weakness, is rare and is referred to as distal myasthenia gravis. Despite its clinical significance, the diagnosis of distal myasthenia gravis is often delayed or missed owing to mild and atypical symptoms.
Case Report: We report the case of a 52-year-old ethnic Han woman who presented with task-related isolated transient right-hand weakness that began 15 years ago and lasted for 9 years without aggravation or improvement.
CGG/CCG Repeat Expansions in in Thai Patients With Oculopharyngodistal Myopathy.
Neurol Genet
August 2024
From the Department of Medicine (S.P.), Bhumibol Adulyadej Hospital; Department of Neurology (M.A., T.T.), Neurological Institute of Thailand; Department of Medicine (R.W., C.D.), Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok; Department of Medicine (T.L.), HRH Princess Sirindhorn Hospital, Rayong; Department of Radiology (S.W.), Bhumibol Adulyadej Hospital, Bangkok, Thailand; Department of Neuromuscular Research (A.Y., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); and Department of Clinical Genome Analysis (S.F., A.I., I.N.), Medical Genome Center, NCNP, Tokyo, Japan.
Objectives: This study characterizes oculopharyngodistal myopathy in 4 Thai patients from 3 families with CGG/CCG repeat expansion in .
Methods: Repeat-primed PCR analyzed CGG/CCG repeat size in in 4 Thai patients suspected of oculopharyngodistal myopathy (OPDM). Clinical records were reviewed for clinicopathologic features.
The speed of completion of the decremental responses on repetitive nerve stimulation.
Clin Neurophysiol Pract
June 2024
Department of Neurology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi-ku, Tokyo 1738605, Japan.
Objective: It is generally believed that the decremental response in repetitive nerve stimulation (RNS) stabilizes at the fourth or fifth response. We have a preliminary impression that the decremental response approaches a plateau earlier in proximal muscles than in distal muscles. We investigated the speed of the completion of the decremental response in different muscles.
View Article and Find Full Text PDFCharacterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
J Neuromuscul Dis
September 2024
Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital "Alexandrovska", Sofia, Bulgaria.
Article Synopsis
- Congenital myasthenic syndromes (CMS) are inherited conditions causing muscle weakness and fatigue, and this study focuses on patients with a specific genetic mutation (c.1327delG in the CHRNE gene) linked to CHRNE-CMS.* -
- The research involved 91 Bulgarian Roma patients and assessed various symptoms such as ocular issues and muscle weakness using standardized tests and patient-reported measures, categorizing severity into mild, moderate, and severe levels.* -
- Results indicated notable variability in symptoms among patients, including consistent bulbar weakness and permanent diplopia, while severe cases showed more significant respiratory function impairment, highlighting the diverse clinical presentation of this genetic mutation.*
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Brain
November 2024
Centre de référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, Hôpital Pitié-Salpêtrière, Assistance Publique des Hôpitaux de Paris, 75013 Paris, France.
Article Synopsis
- Congenital myasthenic syndromes (CMS) are genetic disorders that impact neuromuscular transmission, primarily identified in childhood but often diagnosed in adulthood, leading to challenges in management.
- A study of 235 adult CMS patients in France revealed diverse genetic mutations and highlighted the need for ongoing care, as the prognosis and long-term outcomes remain unclear.
- The research categorized patients based on the initial symptoms and found varied disease progression patterns, with certain genotypes showing higher rates of ICU admission and the stability of phenotypical features across a patient's life.
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