What steps it is taking to address the needs of individuals with Duchenne muscular dystrophy.

It has been with theneeds of those with Duchenne Muscular Dystrophy (DMD) very much in mind thatthe Scottish Government has been encouraging the development of the Scottish MuscleNetwork (a national MCN) based at Yorkhill. The network aims to improve the careprovided to all Scottish neuromuscular patients, regardless of where they live,by ensuring they have access to local health, social and educational professionalswho are informed about the condition and its complications. It is currently developingclinical standards of care for those with DMD.
In line with a recommendation in the GeneticsReview, a consultant clinical geneticist and a physiotherapist are being appointedas part of the Scottish Muscle Network. The clinical geneticist will be responsiblefor the establishment of a Scotland-wide DMD register which will amongst other things,provide a better understanding of the determinants and occurrence of disease.
The Scottish MolecularGenetics Consortium (SMGC) offers molecular genetic tests to detect a range of singlegene disorders, including DMD, in symptomatic patients, for pre-symptomatic (i.e.people who may have inherited the defect but not yet developed signs), potentialcarriers of the gene who would be at risk of having affected children, and for prenataldiagnosis for families who request this service.
Early orthopaedicintervention is crucial in improving survival and quality of life, and the paediatricscoliosis service in Scotland has been designated as a national servicesince April 2005. Designation has brought with it increased funding of £2.2 milliona year to increase the capacity of the service and reduce waiting times.
Access to specialistcardiological care also has a significant influence on survival, given the effectof cardiomyopathy on deaths, and proposals are being developed to promote closerworking between cardiologists and clinical geneticists.
A number of otherspecialist children’s services, which provide further clinical input, are currentlyunder review for example complex respiratory and neurology. The outcomes from thesereviews will form the basis of the National Delivery Plan for Specialist Children’sServices in Scotland. This will be presented to the Cabinet Secretaryfor consideration later in 2007.
A comprehensive review of the NHS Wheelchairand Seating Service has been carried out. The review recognised particular issuesaffecting such individuals, for example the lack of regular planned assessment andeligibility for powered chairs. The removal of current criteria, in a phased manner,unless they refer to safety, is one of the recommendations which ministers are currentlyconsidering with a view of responding before the end of the year.
For young adults withthe condition, the Rehabilitation Framework will ensure that there is access torehabilitation services at home. We are also promoting the use of assistive technologieswithin the framework which will help support these individuals to remain as functionallyindependent as is possible within their own environment.
The Scottish Governmentfully recognises the invaluable contribution that unpaid carers make, not just tothose they care for but to the wider community, in relation to conditions such asDMD. That is why we have said that we will do more to support unpaid carers by intensifyinginitiatives to implement the conclusions of the Care 21 report: The future ofunpaid care in Scotland. In particular, we will focus on the areas of respite,carer training, young carers and carer centre support.
These children andyoung people have been identified as having very complex needs and a number of actionshave been identified in Delivering a Healthy Future – An Action Frameworkfor Children and Young People which are expected to improve services for themand their families.