Muscular Dystrophy


Contents


[1.1]What is Muscular Dystrophy?

Muscular Dystrophy is a group of muscle disorders that are characterized by progressive weakness and wasting of the muscles that control body movement. As muscle tissue weakens and wastes away, it is replaced by fatty tissue.


[1.2]Who can be affected by Muscular Dystrophy?

Anyone can be affected. Contrary to popular belief, Muscular Dystrophy is not just a childhood disorder. While some types of MD are first evident in infancy or early childhood, other types may not appear until later in life.


[1.3]What causes Muscular Dystrophy?

Muscular Dystrophy is caused by a defect in the genes that keeps them from making enough of a protein called Dystrophin causing a breakdown of muscle fibers.


[1.4]Where do these faulty genes come from?

When a baby is born, he/she receives 23 chromosomes from each parent, for a total of 46 chromosomes (23 pairs). Normally, each pair of chromosomes carries genes for the same trait. 22 pairs of the chromosomes are called autosomal chromosomes, which simply means that they are identical in both males and females. The 23rd chromosomal pair is known as the sex chromosome, and it is here that the sex of the unborn child is determined. Each female carries two X chromosomes and each males carries one X and one Y chromosome. An unborn child will receive one X chromosome from the mother and either an X or a Y from the father. If an X is received from each parent, the child will be a girl (XX). If a Y is received from the father, then the child will be a boy (XY). Genes are found packed together on these chromosomes. Each gene has a precise location on one of them. For reasons that are only partly understood, one or more genes may become flawed or lost, and a serious disorder may result.


[1.5]Can it be inherited?

Yes, and there are three main patterns of inheritance: autosomal dominant and autosomal recessive, which relate to transmission of traits determined by genes on the autosomal chromosomes, and X-linked recessive, which pertains to traits determined by genes found on the X chromosomes. Disorders that follow an autosomal dominant inheritance pattern typically appear in every generation, without skips. Autosomal refers to the fact that the genetic error can occur on any one of the 46 chromosomes in each cell in the human body, except the two sex chromosomes. Dominant refers to the fact that it is necessary for only one parent to transmit the abnormal gene for the disorder to be transmitted. The other parent transmits a normal gene. Thus, the disorder can be inherited from either parent and each child of an affected parent has a 50% chance of being affected. The severity of the disorder and the age of onset can vary from person to person. Examples of disorders with this type of inheritance pattern are facioscapulohumeral dystrophy and myotonic dystrophy. In autosomal recessive inheritance, the disorder usually appears in only one generation, and there is typically no previous family history of the disorder. Both parents must be carriers of the faulty gene. A carrier harbors the faulty gene, but usually show no symptoms. Recessive refers to the fact that the child needs to inherit the faulty gene from both parents in order to have the disease. Children of either sex can be affected. With each pregnancy, there is a 25% chance the child will receive a faulty gene from each parent and thus, will be affected with the disorder. If the child inherits a faulty gene from one parent only, he/she will be a carrier of the disorder, but will probably show no symptoms. There is a 50% chance the child will be a carrier.


[1.6]Duchenne Muscular Dystrophy

The onset is usually from birth to age six. Is Generalized by weakness and muscle wasting affecting limb and trunk muscles first. Also the Calves are often enlarged. Duchenne progresses slowly but affects all voluntary muscles. With Survival rare beyond late twenties. With females being the carriers.



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