ND1 - AMBULATORY FUNCTION IN DUCHENNE MUSCULAR DYSTROPHY (DMD): THE CHARACTERISTIC TRAJECTORY AND VARIATION ACROSS INDIVIDUALS
نویسندگان
چکیده
منابع مشابه
Symptomatic therapy of Duchenne Muscular Dystrophy (DMD)
DMD certainly has a remarkable position amongst all hereditary muscle disorders. Noteworthy is its relatively high incidence as a " rare disease " , its X-chromosomal mode of inheritance, the high frequency of new mutations , as well as its relatively rapid and fatal course. For a century the disorder was considered to be untreatable. Only 40 years ago the patients' " natural " age at death was...
متن کاملTransition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy, affecting 1 in 3500 live male births. Mutations in the X chromosome result in an absence of dystrophin, causing progressive muscle degeneration and loss of ambulation by the early teens with respiratory, orthopaedic and cardiac complications. Without intervention these complications lead to death at a mean age of...
متن کاملDuchenne Muscular Dystrophy (DMD) Protein-Protein Interaction Mapping
Objective Duchenne muscular dystrophy (DMD) is one of the mortal diseases, subjected to study in terms of molecular investigation. In this study, the protein interaction map of this muscle-wasting condition was generated to gain a better knowledge of interactome profile of DMD. Materials & Methods Applying Cytoscape and String Database, the protein-protein interaction network was constructed ...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملDuchenne Muscular Dystrophy and Brain Function
Muscular dystrophies have historically been characterised according to clinical criteria, however in the genomic age the muscular dystrophies are now subdivided into groups according to the primary gene defect. Currently identified are 29 different loci and encoded proteins, giving rise to 34 distinct forms of muscular dystrophy (Dalkilic & Kunkel 2003; Hsu 2004). The majority of these types of...
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ژورنال
عنوان ژورنال: Value in Health
سال: 2018
ISSN: 1098-3015
DOI: 10.1016/j.jval.2018.09.065