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Chapter 8 - Management

from Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

Major advances over the past decades have transformed the management landscape of neuromuscular disorders. Increased availability of genetic testing, innovative therapies that target specific disease pathways and mechanisms, and a multidisciplinary approach to care including both transitional and palliative care contribute to timely and more appropriate management of conditions that are associated with a severe disease burden and often also a reduction of life expectancy.

There is an increasing number of consensus recommendations/guidelines that are a useful adjunct for establishing a timely and accurate diagnosis, and enable prognostication of disease-related complications, are a guide for multidisciplinary care and treatment, and expedite initiation of disease-modifying interventions. A number of these guidelines have been referred to in various cases, such as myasthenia gravis (MG), myotonic dystrophy type 1 and 2, chronic inflammatory demyelinating neuropathies (CIDP), and Duchenne muscular dystrophy (DMD), to name a few.

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