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Pathophysiological Process - Muscular Dystrophy

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Name one pathophysiological process that is related to the muscular system.

1. Provide an overview of the pathological process you have selected.

2. Describe normal anatomy/physiology of the process involved.

3. Discuss the anatomy/physiology of the pathological process of the condition you have selected. Specifically, focus on how normal anatomy/physiology has been altered to present the disease state you have selected.

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Solution Summary

The solution discusses a pathophysiological process based on muscular dystrophy.

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Muscular dystrophy

Muscular dystrophy is one of the pathophysiological process that is related to the muscular system.

Overview

Muscular dystrophy (MD) is a broad term that describes a genetic (inherited) disorder of the muscles. Muscular dystrophy causes the muscles in the body to become very weak. The muscles break down and are replaced with fatty deposits over time. Muscular dystrophy is a genetic disorder that is characterized by muscle wasting and weakening. Because MD is genetic, people are born with the problem - it's not contagious and you can't catch it from someone who has it.

Causes

Hundreds of genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. Many of these mutations are inherited, but some occur spontaneously in the mother's egg or the developing embryo.

Symptoms

Progressive muscle weakness is the main feature of muscular dystrophy. Each separate form of muscular dystrophy varies a bit in terms of the age at which the signs and symptoms usually begin and the sequence in which different muscle groups are affected.

Prevalence

About 1 out of every 3,500 to 5000 boys is born with MD, and there are about 400 to 600 new cases each year in the United States. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children.

Types of Muscular Dystrophy

1) Duchenne muscular dystrophy (DMD), the most common type of the disease, is caused by a problem with the gene that makes a protein called dystrophin. This protein helps muscle cells keep their shape and strength. Without it, muscles break down and a person gradually becomes weaker. DMD affects boys. Symptoms usually start between ages 2 and 6. By age 10 or 12, kids with DMD often need to use a wheelchair. The heart may also be affected, and people with DMD need to be followed closely by a lung and heart specialist. They can also develop scoliosis (curvature of the spine) and tightness in their joints. Over time, even the muscles that control ...

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