Enter Your Search:
Results 1-3 (3)
Go to page number:
Select a Filter Below
Acta Myologica (1)
Journal of Neurology (1)
Orphanet Journal of Rare Diseases (1)
Gramsch, Kathrin (2)
Lochmüller, Hanns (2)
Rodger, Sunil (2)
Vry, Julia (2)
Bladen, Catherine L. (1)
Bushby, Kate (1)
Bushby, Katharine (1)
DE LOS ANGELES BEYTÍA, MARIA (1)
KIRSCHNER, JANBERND (1)
Kirschner, Jan (1)
Kirschner, Janbernd (1)
Stringer, Angela (1)
Thompson, Rachel (1)
VRY, JULIA (1)
Woods, Katherine L. (1)
Year of Publication
Did you mean:
Adult care for Duchenne muscular dystrophy in the UK
Woods, Katherine L.
Bladen, Catherine L.
Journal of Neurology
Survival in Duchenne muscular dystrophy (DMD) has increased in recent years due to iterative improvements in care. We describe the results of the CARE-NMD survey of care practices for adults with DMD in the UK in light of international consensus care guidelines. We also compare the UK experience of adult care with the care available to pediatric patients and adults in other European countries (Germany, Denmark, Bulgaria, Czech Republic, Hungary, and Poland). UK adults experience less comprehensive care compared to children in their access to specialized clinics, frequency of cardiac and respiratory assessments, and access to professional physiotherapy. Access to the latter is especially poor when compared to other European adult cohorts. Although the total number of nights in hospital (planned and unplanned admissions) is lower among UK adults than elsewhere in Western Europe, social inclusion lags behind other Western European countries. We observe that attendance at specialized clinic is associated with more frequent cardiac and respiratory assessments among adults, in line with international best practice. Attendance at such clinics in the UK, though comparable to other countries, is still far from universal. With an increasing adult population living with DMD, and cardiac and respiratory failure the leading causes of death in this population, we suggest the need for an urgent improvement in adult access to specialized clinics and to consistent, comprehensive best practice care.
Duchenne muscular dystrophy; DMD; Care; Adult; Neuromuscular; CARE-NMD
How reference networks develop, implement, and monitor guidelines
Orphanet Journal of Rare Diseases
Drug treatment of Duchenne muscular dystrophy: available evidence and perspectives
DE LOS ANGELES BEYTÍA, MARIA
Duchenne muscular dystrophy (DMD) is a disease linked to the X-chromosome which affects 1 in 3,600-6,000 newborn males. It is manifested by the absence of the dystrophin protein in muscle fibres, which causes progressive damage leading to death in the third decade of life. The only medication so far shown to be effective in delaying the progression of this illness are corticosteroids, which have been shown to increase muscle strength in randomised controlled studies; long-term studies have demonstrated that they prolong walking time and retard the progression of respiratory dysfunction, dilated cardiomyopathy and scoliosis. Several potential drugs are now being investigated. Genetic therapy, involving the insertion of a dystrophin gene through a vector, has proven effective in animals but not humans. Currently under clinical study is Ataluren, a molecule that binds with ribosomes and may allow the insertion of an aminoacid in the premature termination codon, and exon-skipping, which binds with RNA and excludes specific sites of RNA splicing, producing a dystrophin that is smaller but functional. There are also studies attempting to modulate other muscular proteins, such as myostatin and utrophin, to reduce symptoms. This paper does not address cardiomyopathy treatment in DMD patients.
Duchenne muscular dystrophy; drug treatment; clinical trials
Results 1-3 (3)
Go to page number:
Remove citation from clipboard
Add citation to clipboard
This will clear all selections from your clipboard. Do you wish proceed?
Clipboard is full! Please remove an item and try again.
PubMed Central Canada is a service of the
Canadian Institutes of Health Research
(CIHR) working in partnership with the National Research Council's
national science library
in cooperation with the
National Center for Biotechnology Information
U.S. National Library of Medicine
(NCBI/NLM). It includes content provided to the
PubMed Central International archive
by participating publishers.