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2018 ; 17
(3
): 251-267
Nephropedia Template TP
gab.com Text
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English Wikipedia
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and
neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional
management
#MMPMID29395989
Birnkrant DJ
; Bushby K
; Bann CM
; Apkon SD
; Blackwell A
; Brumbaugh D
; Case LE
; Clemens PR
; Hadjiyannakis S
; Pandya S
; Street N
; Tomezsko J
; Wagner KR
; Ward LM
; Weber DR
Lancet Neurol
2018[Mar]; 17
(3
): 251-267
PMID29395989
show ga
Since the publication of the Duchenne muscular dystrophy (DMD) care
considerations in 2010, multidisciplinary care of this severe, progressive
neuromuscular disease has evolved. In conjunction with improved patient survival,
a shift to more anticipatory diagnostic and therapeutic strategies has occurred,
with a renewed focus on patient quality of life. In 2014, a steering committee of
experts from a wide range of disciplines was established to update the 2010 DMD
care considerations, with the goal of improving patient care. The new care
considerations aim to address the needs of patients with prolonged survival, to
provide guidance on advances in assessments and interventions, and to consider
the implications of emerging genetic and molecular therapies for DMD. The
committee identified 11 topics to be included in the update, eight of which were
addressed in the original care considerations. The three new topics are primary
care and emergency management, endocrine management, and transitions of care
across the lifespan. In part 1 of this three-part update, we present care
considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine
(growth, puberty, and adrenal insufficiency), and gastrointestinal (including
nutrition and dysphagia) management.