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10.1002/ajmg.a.38418

http://scihub22266oqcxt.onion/10.1002/ajmg.a.38418
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suck abstract from ncbi


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pmid28889642      Am+J+Med+Genet+A 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 PMID28889642show 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.
  • |Age Factors[MESH]
  • |Animals[MESH]
  • |Clinical Trials as Topic[MESH]
  • |Combined Modality Therapy/methods[MESH]
  • |Disease Management[MESH]
  • |Humans[MESH]
  • |Neuromuscular Diseases/diagnosis/etiology/*therapy[MESH]


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