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Classification of Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Our approach is to classify myopathy into congenital and acquired forms. The congenital form is usually associated with hereditary or sporadic gene mutations. The acquired form is either due to systemic diseases or could be acquired through sporadic cause. Myopathic dystrophies are categorized under hereditary form as their abnormal genes usually run in the family, such as Duchenne muscular dystrophy (DMD) and Limb-girdle muscular dystrophy (LGMD). Other variants of hereditary or sporadic myopathies may be associated with either specific structural abnormalities or presented with unique histopathological feature. For example, myotubular myopathy (MTM) is characterized by the presence of central large nuclei in every muscle fiber. This disease is hereditary and associated with progressive muscle symptoms.
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
The absent/deficient protein in both Duchenne and Becker dystrophies is known as dystrophin. Becker dystrophy significantly shortens life but affected individuals live longer than those with Duchenne dystrophy. Myotonic dystrophy is characterized by an extreme paucity of new mutations. Congenitally affected infants are almost always born to affected mothers, many of whom are not aware they have the disease at the time the affected infant is born. Facio-scapulo-humeral (FSH) dystrophy is an autosomal dominant disorder characterized by extreme variability of expression. Charcot-Marie-Tooth (CMT) disease can be inherited in autosomal recessive, autosomal dominant and an X-linked manner. X-linked CMT is now recognized as the second most common type after autosomal dominant types.
Lichen Planus
Published in Nilton Di Chiacchio, Antonella Tosti, Therapies for Nail Disorders, 2020
Bianca Maria Piraccini, Aurora Alessandrini, Michela Starace
Treatment of nail LP is direct to stopping the inflammatory response, but it is difficult, as not all patients respond to therapy. Mild forms of lichen planus may resolve spontaneously, and so, often, no treatment is necessary. However, more severe inflammation and potentially scarring disease should be treated more aggressively to prevent permanent dystrophy.
Optical coherence tomography findings and choroidal neovascular membrane detectability with optical coherence tomography angiography in different subtypes of pattern dystrophy
Published in Clinical and Experimental Optometry, 2022
Ceylan Uslu Doğan, Emine Betül Akbaş Özyürek, Sümeyra Keleş Yeşiltaş, İbrahim Çağrı Türker, Eyüp Düzgün, Dilek Güven
Approval was obtained from the Şişli Hamidiye Etfal Training and Research Hospital ethics committee for this study, which was designed as a retrospective, cross-sectional study. (Date: 01/28/2020, Number: 2655) The principles of the Declaration of Helsinki were adhered to. For the study, patients aged thirty and above who were followed up with a diagnosis of pattern dystrophy in the retina unit of the ophthalmology clinic between January 2018 and January 2020 were sequentially reviewed. Twenty-nine patients whose diagnosis of pattern dystrophy was confirmed by two researchers with clinical, OCT, FAF and FA findings were included in the study, and suspicious cases were excluded. The cases were categorised by two researchers according to clinical findings and subretinal deposit accumulation pattern in OCT in compliance with the classification of Gass.1–3 Existing ophthalmologic and systemic diseases, best corrected visual acuity, intraocular pressure values measured by Goldmann applanation tonometry, anterior segment and fundus examinations were recorded. Patients with vision loss that could reduce the imaging quality or who had uveitis, retinal diseases except pattern dystrophy lesions, previous ophthalmic trauma or a history of retinal surgery were excluded from the study. Both eyes of the participants were included in the study and were evaluated on FA images, FAF images and macular images taken with the OCT device, and OCTA 6 millimetre (mm) × 6 mm macular scans.
Analyzing walking speeds with ankle and wrist worn accelerometers in a cohort with myotonic dystrophy
Published in Disability and Rehabilitation, 2019
Aura Cecilia Jimenez-Moreno, Sarah J. Charman, Nikoletta Nikolenko, Maxwell Larweh, Chris Turner, Grainne Gorman, Hanns Lochmüller, Michael Catt
Myotonic Dystrophy type 1 (DM1) is a rare autosomal dominant neuromuscular disorder, which affects multiple organ systems resulting in signs of premature ageing, muscle weakness, myotonia and fatigue among other symptoms [9,10]. This is the most common inherited muscular dystrophy amongst adults encompassing about 30% of genetic caused neuromuscular disorder in this age group [11]. Muscle weakness, regardless of having a relatively slow progression, has proven to impact significantly on patient’s ambulation and balance, most particularly the ankle weakness [12,13]. The combination of muscle weakness and the fatigue and daytime sleepiness, results in a population less active and with reduced social participation [14,15]. There is no current drug on market available for these patients so alternative methods to improve patient’s quality of life have been proposed [16]. Targeting DM1 disturbed physical activity patterns has been proposed as a possible method to combat fatigue and increase daily life participation [17,18].
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
The term “muscular dystrophy” refers to a group of genetically determined disorders characterized by progressive degeneration of skeletal muscle without primary structural abnormality in the lower motor neuron.45 Duchenne, Becker, facioscapulohumeral, and myotonic muscular dystrophies are the most frequent heritable muscular dystrophies. The limb-girdle, Emery-Dreifuss, oculopharyngeal muscular dystrophies, and congenital muscular dystrophies are less common.66 Limb-Girdle and Emery-Dreyfus dystrophies have no ophthalmological manifestations. Muscle membrane or supporting proteins are characterized by pathological evidence of ongoing muscle degeneration and regeneration in muscular dystrophies67 (Table 4).