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Quoted phrase not found in phrase index: "Late-onset proximal muscle weakness"
Page 1
Emerging and established biomarkers of oculopharyngeal muscular dystrophy.
Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J. Smith IC, et al. Neuromuscul Disord. 2023 Nov;33(11):824-834. doi: 10.1016/j.nmd.2023.09.010. Epub 2023 Oct 6. Neuromuscul Disord. 2023. PMID: 37926637 Review.
Oculopharyngeal muscular dystrophy (OPMD) is a rare, primarily autosomal dominant, late onset muscular dystrophy commonly presenting with ptosis, dysphagia, and subsequent weakness of proximal muscles. ...A multi-omics approach to biochemical biomarker …
Oculopharyngeal muscular dystrophy (OPMD) is a rare, primarily autosomal dominant, late onset muscular dystrophy commonly pres …
Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy.
Lillback V, Savarese M, Sandholm N, Hackman P, Udd B. Lillback V, et al. Eur J Neurol. 2023 Apr;30(4):1080-1088. doi: 10.1111/ene.15688. Epub 2023 Feb 8. Eur J Neurol. 2023. PMID: 36692225
BACKGROUND AND PURPOSE: Tibial muscular dystrophy (TMD) is a dominant late onset distal titinopathy. It was first described in Finnish patients 3 decades ago. ...RESULTS: In the cohort, the first symptoms were walking difficulties (97.8%) and weakness in dist …
BACKGROUND AND PURPOSE: Tibial muscular dystrophy (TMD) is a dominant late onset distal titinopathy. It was first described in …
Motor neuropathies and lower motor neuron syndromes.
Verschueren A. Verschueren A. Rev Neurol (Paris). 2017 May;173(5):320-325. doi: 10.1016/j.neurol.2017.03.018. Epub 2017 Apr 20. Rev Neurol (Paris). 2017. PMID: 28434507 Review.
The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are muscle weakness (distal or proximal) with atrophy and hyporeflexia, but no sensory involvement. ...The main hereditary LMN …
The term LMNS is more generally used, rather than motor neuronopathy, although both entities are clinically similar. Common features are …
LAMA2-related muscular dystrophy mimicking multiple sclerosis.
Koshorek J, de Macena Sobreira N, Saidha S. Koshorek J, et al. BMJ Case Rep. 2022 Jul 22;15(7):e249061. doi: 10.1136/bcr-2022-249061. BMJ Case Rep. 2022. PMID: 35868801
Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epile …
Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous sys …
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B, Tang S, Lv X, Li D, Xu J, Olsen RKJ, Zhao Y, Li W, Wang T, Shao K, Zhao D, Yan C. Wen B, et al. Hum Mol Genet. 2022 Mar 31;31(7):1115-1129. doi: 10.1093/hmg/ddab308. Hum Mol Genet. 2022. PMID: 34718578
Among 48 MADD patients with a follow-up of 6.1 years on average, 31 patients were free of muscle weakness recurrence, while 17 patients had episodes of slight muscle weakness upon riboflavin withdrawal, but recovered after retaking a small-dose of ribo …
Among 48 MADD patients with a follow-up of 6.1 years on average, 31 patients were free of muscle weakness recurrence, while 17 …
Inflammatory features in sporadic late-onset nemaline myopathy are independent from monoclonal gammopathy.
Tanboon J, Uruha A, Arahata Y, Dittmayer C, Schweizer L, Goebel HH, Nishino I, Stenzel W. Tanboon J, et al. Brain Pathol. 2021 May;31(3):e12962. doi: 10.1111/bpa.12962. Brain Pathol. 2021. PMID: 34043258 Free PMC article.
Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset non-hereditary disease with subacute proximal muscle and often axial muscle weakness, characterized by the presence of nemaline bodies in skeletal muscle biopsies. …
Sporadic late-onset nemaline myopathy (SLONM) is a rare adult-onset non-hereditary disease with subacute proximal mu …
Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.
Monforte M, Primiano G, Silvestri G, Mirabella M, Luigetti M, Cuccagna C, Ricci E, Servidei S, Tasca G. Monforte M, et al. J Neurol. 2018 Mar;265(3):542-551. doi: 10.1007/s00415-018-8741-y. Epub 2018 Jan 22. J Neurol. 2018. PMID: 29356967
Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weakness in late adulthood, and the presence of nemaline bodies on muscle biopsy. ...Our experience confirms that SLONM is clinically …
Sporadic late-onset nemaline myopathy (SLONM) is a rare acquired myopathy characterized by rapid-onset proximal weak …
Statin-naïve anti-HMGCR antibody-mediated necrotizing myopathy in China.
Jiao Y, Cai S, Lin J, Zhu W, Xi J, Li J, Yue D, Zhang T, Qiao K, Wang Y, Zhao C, Lu J. Jiao Y, et al. J Clin Neurosci. 2018 Nov;57:13-19. doi: 10.1016/j.jocn.2018.08.010. Epub 2018 Sep 8. J Clin Neurosci. 2018. PMID: 30205933
Twenty-one statin-naive patients with anti-HMGCR antibody were detected (21.4%), with onset age from 6 to 67 years old. Proximal weakness and neck flexion weakness was the core neurological feature. ...The early-onset patients (<50 years old) were found wi …
Twenty-one statin-naive patients with anti-HMGCR antibody were detected (21.4%), with onset age from 6 to 67 years old. Proximal w …
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC.
Avila-Smirnow D, Gueneau L, Batonnet-Pichon S, Delort F, Bécane HM, Claeys K, Beuvin M, Goudeau B, Jais JP, Nelson I, Richard P, Ben Yaou R, Romero NB, Wahbi K, Mathis S, Voit T, Furst D, van der Ven P, Gil R, Vicart P, Fardeau M, Bonne G, Behin A. Avila-Smirnow D, et al. Rev Neurol (Paris). 2016 Oct;172(10):594-606. doi: 10.1016/j.neurol.2016.07.017. Epub 2016 Sep 12. Rev Neurol (Paris). 2016. PMID: 27633507 Review.
A large family of French origin, presenting an autosomal dominant pattern, characterized by cardiac arrhythmia associated to late-onset muscle weakness, was evaluated to clarify clinical, morphological and genetic diagnosis. Muscle weakness …
A large family of French origin, presenting an autosomal dominant pattern, characterized by cardiac arrhythmia associated to late- …
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A, Díaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Morís G, Muelas N, Vílchez JJ, García-Medina A, Usón M, Martínez García FA, Illa I, Pichiecchio A. Alejaldre A, et al. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011. Neuromuscul Disord. 2012. PMID: 22980766
Late-onset Pompe disease is characterized by progressive weakness involving proximal limb and respiratory muscles. ...There is also a lack of biomarkers related to the clinical progression of the disease. Here we used muscle magnetic resonance i …
Late-onset Pompe disease is characterized by progressive weakness involving proximal limb and respiratory muscle …
30 results