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- W4252354514 abstract "This chapter presents the epidemiology, pathophysiology, clinical, pathological, genetic features, investigations and treatment for distal myopathies. The distal myopathies are rare disorders distinguished by their presentation, namely weakness of the distal limb muscles. In some patients the weakness stays confined to these muscles, whereas in others there is spread to proximal muscles. Myotonic dystrophy can also present with isolated hand weakness or footdrop, and that and facioscapulohumeral muscular dystrophy (FSHD) are the commonest muscular dystrophies in adulthood. The combination of clinical phenotype, creatine kinase (CK) level, muscle imaging, and histopathological findings on muscle biopsy is the key to diagnosis. Muscle imaging using magnetic resonance imaging (MRI) or computed tomography (CT) has been recognized as helpful, and sometimes diagnostic. Cardiomyopathy can be treated with medication, or cardiac transplantation if required. Physiotherapy directed toward preventing ankle contractures is important, as are assistive mobility devices such as ankle orthoses." @default.
- W4252354514 created "2022-05-12" @default.
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- W4252354514 date "2016-04-22" @default.
- W4252354514 modified "2023-10-16" @default.
- W4252354514 title "Distal myopathies" @default.
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- W4252354514 doi "https://doi.org/10.1002/9781118777329.ch119" @default.
- W4252354514 hasPublicationYear "2016" @default.
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