from Part I - Evaluation and Treatment of Patients with a Neuromuscular Disorder
Published online by Cambridge University Press: 29 November 2024
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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