Duchenne muscular dystrophy: advances in therapeutics by Jeffrey S. Chamberlain, Thomas A. Rando
By Jeffrey S. Chamberlain, Thomas A. Rando
Duchenne Muscular Dystrophy (DMD) is likely one of the so much accepted genetic problems of formative years and presently stands as an incurable situation. This authoritative advisor offers a transparent evaluate of the newest present and experimental ways to the remedy of DMD and examines the medical, genetic, and pathophysiological elements of the affliction within the context of rising healing modalities. the single on hand resource at the topic, this reference emphasizes the significance of actual prognosis, service detection, and genetic counseling, and provides state of the art contributions on pharmacological interventions, regenerative drugs, and gene treatment.
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Additional info for Duchenne muscular dystrophy: advances in therapeutics
Limb-girdle muscular dystrophy. Curr Neurol Neurosci Rep 2003; 3(1):78–85. 37. Wicklund MP, Hilton-Jones D. The limb-girdle muscular dystrophics: genetics phenotypic deﬁnition of a disrupted entity. Neurology 2003; 60:1230–1231. 38. Moxley RT III, Ashwal S, Pandya S, et al. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the practice commitee of the Child Neurology of Society. Neurology 2005; 64(1):13–20.
A selective deﬁcit in verbal working memory skills is common (4). Early in this stage patients usually can play with their peers in most activities, but by the ﬁrst or second grade some adaptation of physical education requirements becomes necessary. Special classes in school may also be necessary to assist patients in keeping up to grade level. Heel cord and elbow ﬂexion contractures may become evident as patients have more difﬁculty walking. Respiratory, gastrointestinal, and signiﬁcant cardiac problems are uncommon at this stage.
A single utrophin bolt that is composed of one molecule each of utrophin and a- and b-DGs is structurally weaker than a single dystrophin bolt (26). Furthermore, the number of utrophin bolts present on the cell membrane of DMD muscle ﬁbers is less than that of the Dystrophin: Structural Components and the Pathogenesis of DMD 31 dystrophin bolt present on the normal cell membrane. Consequently, the mechanical connection between the basal lamina and actin networks is weaker in DMD muscle ﬁbers than in normal muscle ﬁbers.