Muscular Dystrophies
Küçük Resim Yok
Tarih
2023
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer International Publishing
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Muscular dystrophies are a group of hereditary and often progressive muscle diseases. Structural or functional mutations in one of the proteins in the extracellular matrix surrounding the muscle fibre, sarcolemma, basement membrane, sarcoplasm, or nucleus can result in dystrophic diseases. According to their pathogenesis, muscular dystrophies exhibit a wide range of clinical features including, age of onset of symptoms, clinical course, pattern and severity of involvement, rate of progression, and concomitant conditions. In this chapter, the questions of what kind of complaints, physical and laboratory examination findings are detected in muscular dystrophies, and what are the genetic causes are answered. Differential diagnosis methods are briefly explained. Examples of patients with their muscle biopsy images, and changes observed in muscle dystrophies are presented. At the end of the chapter, under the title “all about the pathology of muscular dystrophies”, case examples, surprising cases, short clinical histories, and histopathological pictures are presented. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023.
Açıklama
Anahtar Kelimeler
Becker muscular dystrophy, Congenital muscular dystrophy, Duchenne muscular dystrophy, Emery Dreifuss muscular dystrophy, Facioscapulohumeral dystrophy, Limb girdle muscular dystrophy, Myotonic dystrophy, Oculopharyngeal muscular dystrophy
