Duchene Muscular Dystrophy

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TABLE OF CONTENTS

Introduction4

Review of Duchene Muscular Dystrophy4

General Aspects7

Genetic aspects regarding DMD7

Gene Therapy8

Chromosomal Freezing11

Cognitive dysfunction in DMD14

Future Forecast15

Genetic Engeneering15

Physiotherapy16

Conclusion17

Muscular Dystrophy in Pictures17

References18

Introduction

An inherited disorder transferred from parents to their offspring's is considered as a serious disease mostly leads to death in early ages. The disorder is caused due to chromosomal disorder in the human body which leads to weaken the body muscles slowly and gradually. It is characterized as a disease which deflates the body performance and it weak in terms of muscular power, which eventually leads to a complete disability that is the person, would not be able to move a single step by himself. This disease affects about 1 person in 4000 that is the probability of its affection is quite low but it would lead to complete disability (Bergman, 1996). Commonly in DMD affects only men, although women can be disease carriers of the disease. If you considered a father is ill from DMD and the carrier is mother or ill too, in that case for Duchene muscular dystrophy can be ill woman.

Review of Duchene Muscular Dystrophy

Duchene dystrophy is the most common and severe muscular dystrophy, linked to chromosome X, which affects especially male children. It is characterized by progressive and irreversible degeneration of the skeletal muscles, resulting in muscle weakness and widespread as a result of the lack of the protein dystrophic in the membrane of muscle cells. This disease was first described in the first half of the nineteenth century, the English physician Charles Bell. In the year 1836, Conte and Gijon described two brothers who developed progressive muscle weakness in the lower limbs and progressive hypertrophy of the gastronomies and deltoid muscles, around 8 to 10 years old. Already in 1847, Partridge reported the first examination of a patient with Duchene muscular dystrophy. However, the first complete description of disease was made only in 1852, by Dr. Edward Meryon. This type of dystrophy is the most common and the most serious of all types of muscular dystrophy exist, and where the symptoms are more severe clinical picture with fast-moving, sometimes progressing to death within 2 or 3 decade. Clinical manifestations usually appear around 3 to 5 years of life, and they are: weakness and / or muscle weakness of the pelvic girdle, especially in extensor muscles and hip abductors, subsequently affecting the muscles of the shoulder region (Bergman, 1996). This weakness of the hip muscles leads to the patient's difficulties in climbing stairs, running, getting up and walking mostly, besides causing frequent falls. Children with Duchene have this characteristic signal to arise, known as Signal Glowers in performing a bearing to their knees, and with outstretched forearms rest on the ground, in order to raise the buttocks and one knee in order to stand. It was also observed in individuals with this condition, the muscle contracture or retention, especially in the hip, knee and ankle when performing certain movements. Another manifestation of this disease observed with great frequency is ...