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Neuromuscular Junction Syndromes and Ocular Myopathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Oculopharyngeal muscular dystrophy (OPMD) differs from CPEO, having an autosomal dominant transmission. Typically, ptosis is an early presenting sign, followed usually years later by ocular motor dysfunction, and/or involvement of non-ocular, bulbar or proximal limb musculature. The hallmark of the disease is the association of ptosis, progressive ophthalmoplegia and dysphagia. Unlike in CPEO, diagnosis does not require a muscle biopsy, but a blood genetic testing, searching for a trinucleotide repeat on chromosome 14.
Muscular Dystrophy Diseases
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Facioscapulohumeral muscular dystrophy (FHMD), myotonic dystrophy (DM), and oculopharyngeal muscular dystrophy (OPMD) are autosomal dominant disorders of unusual molecular defect that involve nucleotide repeats. The characteristic features are similar, and their diagnoses cannot be made on muscle biopsy alone. No specific pathological features or IHC findings have been identified in affected patients of FHMD despite previous published studies.
Neuromuscular disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Occasional families with LGMD, often following a more benign course with adult onset, show autosomal dominant inheritance. Finally, we mention oculopharyngeal muscular dystrophy. This is a rare, usually autosomal dominant, muscular dystrophy that involves particularly the head and neck region but can also cause a proximal limb girdle muscle weakness. This is associated with an unstable triplet repeat in the PABPN1 gene.
A review of surgical management of progressive myogenic ptosis
Published in Orbit, 2023
Royce B. Park, Sruti S. Akella, Vinay K. Aakalu
Oculopharyngeal muscular dystrophy (OPMD) is a slowly progressive disease involving symmetric blepharoptosis, dysphagia, and proximal muscle weakness.3 It is inherited in an autosomal dominant pattern and its onset is insidious, typically manifesting during the fifth or sixth decade of life.3 French Canadians (Quebec), Hispanic New Mexicans, and Israeli Bukhara Jewish populations are most prevalently affected by OPMD.13 The condition is diagnosed through molecular genetic testing and manifests as a myopathy affecting skeletal muscle cells.38 The levator palpebrae superioris and pharyngeal muscles are often most severely impaired, but the disease can also involve other extraocular muscles and limb muscle groups.38 Patients will compensate for progression of ptosis with contraction of the frontalis muscle and “backward head tilt.”38 Meanwhile, the orbicularis oculi muscle and Bell’s phenomenon are fairly well-preserved in OPMD patients.3 Surgical techniques described include blepharoplasty, levator advancement, frontalis sling, and combined aponeurosis-Muller muscle advancement.12
Ibuprofen-based advanced therapeutics: breaking the inflammatory link in cancer, neurodegeneration, and diseases
Published in Drug Metabolism Reviews, 2021
Arun Upadhyay, Ayeman Amanullah, Vibhuti Joshi, Rohan Dhiman, Vijay Kumar Prajapati, Krishna Mohan Poluri, Amit Mishra
Formation of nuclear aggregates of the mutants of the poly(A)-binding protein (PABP1) are the characteristic features of an autosomal dominant pathological condition called oculopharyngeal muscular dystrophy, in which difficulty in swallowing and moving eyelids could be observed (Brais 2003). It has been observed that Ibuprofen induces a prominent stress response inside the cells by upregulating the expression of Hsp70 that helps in reducing the cellular load of polyalanine aggregates (Wang et al. 2005). Although several studies conducted to date indicate the vast potential of this popular NSAID in the treatment of one or many neuronal diseases, the therapeutic application of Ibuprofen remains limited due to the very poor penetration across the blood–brain barrier (Mannila et al. 2005). There are multiple challenges currently persisting across the drug discovery paradigm that restrain the repurposing of the drug Ibuprofen for the treatment of other fatal diseases. The upcoming section will elaborate on similar challenges and possible solutions that will contribute to our existing knowledge about its therapeutic limitations and help us overcome the expansion of its medical applications.
Red Flags in the Assessment of Adult Ophthalmoplegia
Published in Journal of Binocular Vision and Ocular Motility, 2018
Kimberly S. Merrill, Michael S. Lee, Collin M. McClelland
While ptosis and EOM weakness are highly symptomatic and therefore easily recognized by the patient and clinician, orbicularis oculi weakness is common in OMG but usually asymptomatic and only identified if orbicularis oculi strength is specifically tested. In the setting of recently acquired ptosis and/or incomitant strabismus, accompanying orbicularis oculi weakness strongly suggests a diagnosis of myasthenia gravis.1 Alternative etiologies for ptosis, ophthalmoplegia, and orbicularis oculi weakness including myotonic dystrophy, chronic progressive external ophthalmoplegia, and oculopharyngeal muscular dystrophy are usually easily distinguishable from myasthenia gravis, because these entities develop slowly over years. Additionally, elderly patients may exhibit physiologic, mild orbicularis oculi weakness.