DUCHENNE MUSCULAR DYSTROPHY

Duchenne Muscular Dystrophy



Duchenne Muscular Dystrophy

Introduction

Liam Byrne is an 8-year-old boy who lives with his parents Elaine and Michael and his two siblings Fiona aged 4 years and Deirdre aged 6 years. They live in a two-story semi-detached house in a small town. Liam has Duchenne muscular dystrophy (a life-limiting genetic condition) and is now unable to walk. Michael is in full time employment, while Elaine works full time within the home.

Assessment

Community nurses work in a variety of ways, some focusing on specific conditions or groups, and others providing a much more generalist service, for example in Rathlin Island. Arguably, in Northern Ireland there has been a concentration on developing specialist roles that are crucial in supporting front line generalist services. Together with Scotland and England, we now wish to complement this by valuing and enhancing the skills of nurses whose work is more generalist.

Community nurses will have an increasingly important part to play in providing first contact and out of hours services, and this will need advanced skills. A quality framework will reward practices for quality care in four areas:

clinical standards, organisational standards; experience of patients; and additional services.

In the early stages of muscular dystrophies for Liam, cardiomyopathy is usually asymptomatic because of some compensatory mechanisms, including activation of the sympathetic nervous system (Lu & Hoey, 2000:15). Eventually, functional reserve of the heart is exhausted and Liam develops classic signs of DCM. Because DMD patients often have limited physical abilities, pathologic changes of the heart are seldom detected until the disease is quite severe; however, because the physical ability of BMD patients varies, cardiac manifestations for BMD patients are much more variable. In BMD patients who live a more active lifestyle, cardiac symptoms may lead the patient to the cardiologist before skeletal muscle weakness is noticed and the BMD diagnosis is made. In BMD patients who have minor physical limitation, the cardiac disease may negatively affect quality of life more than the skeletal symptoms. Therefore, early diagnosis and treatment of cardiomyopathy will greatly benefit patients with muscular dystrophy (English & Gibbs, 2006:34).

Cardiac condition can be assessed via 12-lead or Holter electrocardiogram (EKG) and echocardiogram. Cardiac magnetic resonance imaging (MRI) allows functional assessment, as do computerized tomography imaging, radionuclide imaging, and positron emission testing. Additionally, MRI can show the presence and degree of fibrosis. Clinicians have different preferences in setting the time intervals between cardiac follow-up visits. Emerging data have shown that assessment of cardiac function should begin on diagnosis of the muscular dystrophy, and then every year until an abnormality is identified. Once evidence of cardiac abnormality has been identified, the patient may be seen by the cardiologist every three months, or more frequently as necessary depending on the need to assess responses to treatment.

Liam develop sinus tachycardia by 5 years of age and conduction changes by 8 years of age. Irregular conduction patterns seen in a 12-lead EKG include deep Q waves in leads I, aVL, V5, and V6, tall R waves in V1, and the ...