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2018 ; 176
(4
): 804-841
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Treating pediatric neuromuscular disorders: The future is now
#MMPMID28889642
Dowling JJ
; D Gonorazky H
; Cohn RD
; Campbell C
Am J Med Genet A
2018[Apr]; 176
(4
): 804-841
PMID28889642
show ga
Pediatric neuromuscular diseases encompass all disorders with onset in childhood
and where the primary area of pathology is in the peripheral nervous system.
These conditions are largely genetic in etiology, and only those with a genetic
underpinning will be presented in this review. This includes disorders of the
anterior horn cell (e.g., spinal muscular atrophy), peripheral nerve (e.g.,
Charcot-Marie-Tooth disease), the neuromuscular junction (e.g., congenital
myasthenic syndrome), and the muscle (myopathies and muscular dystrophies).
Historically, pediatric neuromuscular disorders have uniformly been considered to
be without treatment possibilities and to have dire prognoses. This perception
has gradually changed, starting in part with the discovery and widespread
application of corticosteroids for Duchenne muscular dystrophy. At present,
several exciting therapeutic avenues are under investigation for a range of
conditions, offering the potential for significant improvements in patient
morbidities and mortality and, in some cases, curative intervention. In this
review, we will present the current state of treatment for the most common
pediatric neuromuscular conditions, and detail the treatment strategies with the
greatest potential for helping with these devastating diseases.