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Muscular Dystrophies

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Clues for Differential Diagnosis of Neuromuscular Disorders

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Abstract

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.

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Authors and Affiliations

  1. Division of Paediatric Neurology, Department of Paediatrics, Tepecik Training and Research Hospital, Health Sciences University, İzmir, Turkey

    Figen Baydan

  2. Department of Neurology, Izmir Bakircay University School of Medicine, Izmir, Turkey

    Bedile Irem Tiftikcioglu

  3. Pathology Department, Izmir Democracy University, School of Medicine, Buca Seyfi Demirsoy Training and Research Hospital, Izmir, Türkiye

    Gulden Diniz

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  1. Pathology Department, Izmir Democracy University, School of Medicine, Buca Seyfi Demirsoy Training and Research Hospital, Izmir, Türkiye

    Gulden Diniz

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Baydan, F., Tiftikcioglu, B.I., Diniz, G. (2023). Muscular Dystrophies. In: Diniz, G. (eds) Clues for Differential Diagnosis of Neuromuscular Disorders. Springer, Cham. https://doi.org/10.1007/978-3-031-33924-0_12

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