Treating pediatric neuromuscular disorders: the future is now

JJ Dowling, H D. Gonorazky, RD Cohn… - American Journal of …, 2018 - Wiley Online Library
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 …

[图书][B] Neuromuscular disorders of infancy, childhood, and adolescence: a clinician's approach

BT Darras, HR Jones Jr, MM Ryan, C Darryl - 2014 - books.google.com
Neuromuscular disorders are diagnosed across the lifespan and create many challenges
especially with infants, children and adolescents. This new edition of the definitive reference …

Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee …

PB Kang, L Morrison, ST Iannaccone, RJ Graham… - Neurology, 2015 - AAN Enterprises
Objective: To delineate optimal diagnostic and therapeutic approaches to congenital
muscular dystrophy (CMD) through a systematic review and analysis of the currently …

Consensus statement on standard of care for congenital muscular dystrophies

CH Wang, CG Bonnemann… - Journal of child …, 2010 - journals.sagepub.com
Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide
spectrum of clinical phenotypes. Recent advances in understanding the molecular …

Congenital myopathies: an update

KG Claeys - Developmental Medicine & Child Neurology, 2020 - Wiley Online Library
Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous
group of rare hereditary muscle diseases that are defined by architectural abnormalities in …

Congenital muscular dystrophies: a brief review

E Bertini, A D'Amico, F Gualandi, S Petrini - Seminars in pediatric neurology, 2011 - Elsevier
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous
neuromuscular disorders with onset at birth or in infancy in which the muscle biopsy is …

Update on muscular dystrophies with focus on novel treatments and biomarkers

N Datta, PS Ghosh - Current neurology and neuroscience reports, 2020 - Springer
Abstract Purpose of Review Muscular dystrophies are a heterogeneous group of inherited
muscular disorders characterized by progressive muscle weakness and in many cases …

Genetic neuromuscular disease

MM Reilly, MG Hanna - Journal of Neurology, Neurosurgery & …, 2002 - jnnp.bmj.com
The clinical practice of neuromuscular disease is currently undergoing enormous change as
a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of …

Congenital muscular dystrophies and myopathies: an overview and update

DC Schorling, J Kirschner, CG Bönnemann - Neuropediatrics, 2017 - thieme-connect.com
With continuous deciphering of the genetic background of congenital muscular dystrophies
and congenital myopathies, some of the historic classifications based on clinical phenotypes …

Recent advances in the management of Duchenne muscular dystrophy

EM Strehle, V Straub - Archives of disease in childhood, 2015 - adc.bmj.com
Duchenne muscular dystrophy (DMD) is the commonest inherited neuromuscular disorder of
childhood and mainly affects males. Over the course of the last century, the average life …