A study of the Clinical Profile and Outcome measures in patients with Duchenne Muscular Dystrophy.

Anilkumar, - (2009) A study of the Clinical Profile and Outcome measures in patients with Duchenne Muscular Dystrophy. Masters thesis, Christian Medical College, Vellore.


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Duchenne Muscular dystrophy (DMD) is one of the commonest forms of muscular dystrophy and is a devastating neuromuscular disorder with relentless progression. It starts in childhood with delayed milestones, abnormal gait, frequent falls, and difficulties in climbing stairs and rising from squatting position, contractures and calf muscles enlargement. About a third of them have IQ below 70. Over a period of time, there is progressive decline in muscle strength with loss of ambulation at a mean age of 9.5 years. Other features include respiratory insufficiency, scoliosis and cardiomyopathy. Eventually, death occurs from respiratory insufficiency or cardiac causes at a mean age of 19 years. The diagnosis is based on clinical features, raised serum Creatine phosphokinase (CPK), absence of dystrophin in muscle biopsy and finding of mutation in dystrophin gene. Treatment goals are to maintain ambulation as long as possible, prevent contractures, and provide psychological support. These can be achieved with physiotherapy, bracing, surgical correction of scoliosis and corticosteroids. Other treatments aiming at the correction of the gene defect itself are not yet available for clinical use. There are few studies aimed at describing the clinical profile, natural history, progression of the disease over a period of time and the effect of multidisciplinary therapy, which includes both drug and non pharmacological methods, including Physiotherapy and Occupational therapy on children with this devastating disorder. This study looks at the entire aspect of clinical profile including the developmental aspects, early symptomatology and a chronological record of various stages of the disease and this is correlated with the genetic aspects, Histopathological data, treatment options, both pharmacological and non pharmacological, using a structured proforma. The natural history is obtained from both the treated group and historical controls seen in the clinic. Aims of the study: To study the natural history, the rate of progression of disease in patients with Duchenne Muscular dystrophy and the impact of treatment on outcome measures. Objectives of the study: 1. To study the disease related milestones including time to stop ambulation and confinement to wheel chair during the course of illness in Duchenne muscular dystrophy. 2. To assess the muscle power and functional measures, anthropometric and goniometric changes and correlate these measures with the various activities of daily living using validated assessment scores. 3. To compare the outcome measure of time to stop ambulation in patients who received the comprehensive treatment for at least 2 years with the historical controls.

Item Type: Thesis (Masters)
Uncontrolled Keywords: Duchenne Muscular Dystrophy ; measures in patients ; Clinical Profile and Outcome.
Subjects: MEDICAL > Neurology
Depositing User: Kambaraman B
Date Deposited: 30 Jun 2017 03:19
Last Modified: 30 Jun 2017 06:34
URI: http://repository-tnmgrmu.ac.in/id/eprint/688

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