Detecting early signs in Duchenne muscular dystrophy: comprehensive review and diagnostic implications
E Mercuri, M Pane, G Cicala, C Brogna… - Frontiers in …, 2023 - frontiersin.org
Despite the early onset of clinical signs suggestive of Duchenne muscular dystrophy (DMD),
a diagnosis is often not made until four years of age or older, with a diagnostic delay of up to …
a diagnosis is often not made until four years of age or older, with a diagnostic delay of up to …
The complex landscape of DMD mutations: moving towards personalized medicine
Duchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by
progressive muscle degeneration, with respiratory and cardiac complications, caused by …
progressive muscle degeneration, with respiratory and cardiac complications, caused by …
Age, corticosteroid treatment and site of mutations affect motor functional changes in young boys with Duchenne Muscular Dystrophy
G Coratti, J Lenkowicz, G Norcia, S Lucibello… - Plos one, 2022 - journals.plos.org
The aim of this study was to establish the possible effect of age, corticosteroid treatment and
brain dystrophin involvement on motor function in young boys affected by Duchenne …
brain dystrophin involvement on motor function in young boys affected by Duchenne …
Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy
J Hoskens, M Schiava, N Goemans… - … Medicine & Child …, 2024 - Wiley Online Library
Aim To investigate functional motor performance in a large cohort of young steroid‐naïve
males with Duchenne muscular dystrophy (DMD) and typically developing males, and to …
males with Duchenne muscular dystrophy (DMD) and typically developing males, and to …
How do fine and gross motor skills develop in preschool boys with Duchenne Muscular Dystrophy?
J Hoskens, I Vandekerckhove, L De Waele… - Research in …, 2024 - Elsevier
Abstract Background Boys with Duchenne Muscular Dystrophy (DMD) experience both fine
and gross motor problems. Nowadays, early intervention focuses almost exclusively on …
and gross motor problems. Nowadays, early intervention focuses almost exclusively on …
[HTML][HTML] Understanding North Star Ambulatory Assessment total scores and their implications for standards of care using observational data
Abstract NorthStar Ambulatory Assessment (NSAA) total score (TS) is an ordinal scale to
evaluate disease progression and treatment response in ambulatory Duchenne Muscular …
evaluate disease progression and treatment response in ambulatory Duchenne Muscular …
[PDF][PDF] Verlaufsuntersuchung degenerativer Myopathien mittels Mechanographie im Vergleich zu konventionellen etablierten Funktionstestungen
F Dreier - 2024 - edoc.ub.uni-muenchen.de
1.5. 1 Klassische Funktionstestungen Der bewährteste Test zur Beurteilung der motorischen
Fähigkeiten bei Patienten mit neuromuskulären Erkrankungen ist der 6MWT. Einerseits wird …
Fähigkeiten bei Patienten mit neuromuskulären Erkrankungen ist der 6MWT. Einerseits wird …
Применение препарата аталурен для лечения пациентов с мышечной дистрофией Дюшенна в реальной клинической практике
СГ Попович, ЛМ Кузенкова, ЕВ Увакина… - … журнал имени ЛО …, 2024 - neuro-journal.ru
Аннотация Цель. Провести анализ анамнестических, клинических и параклинических
показателей у пациентов с мышечной дистрофией Дюшенна (МДД), получающих …
показателей у пациентов с мышечной дистрофией Дюшенна (МДД), получающих …
Multiomic investigations in neuromuscular diseases
I Dabaj - 2023 - policycommons.net
Pediatric neuromuscular disorders encompass all childhood onset diseases affecting the
muscle, the neuromuscular junction, peripheral nerve, and the anterior horn cell. The …
muscle, the neuromuscular junction, peripheral nerve, and the anterior horn cell. The …
[PDF][PDF] Les maladies neuromusculaires d'origine génétique (expérience de l'unité de génétique du CHU Hassan II FES)
A Salma - 2022 - toubkal.imist.ma
LES MALADIES NEUROMUSCULAIRES D'ORIGINE GENETIQUE Page 1 Année 2022
Thèse N 008/22 THÈSE PRÉSENTEE ET SOUTENUE PUBLIQUEMENT LE 04/01/2022 …
Thèse N 008/22 THÈSE PRÉSENTEE ET SOUTENUE PUBLIQUEMENT LE 04/01/2022 …