Muscular DystrophyMuscular Dystrophy

The DefectThe Defect

Muscular dystrophy is a group of inherited Muscular dystrophy is a group of inherited disorders that involve muscle weakness disorders that involve muscle weakness and loss of muscle tissue, which get worse and loss of muscle tissue, which get worse over time.over time.

SymptomsSymptoms All of the muscles may be affected. Or, only specific groups of All of the muscles may be affected. Or, only specific groups of

muscles may be affected, such as those around the pelvis, muscles may be affected, such as those around the pelvis, shoulder, or face. Muscular dystrophy can affect adults, but the shoulder, or face. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.more severe forms tend to occur in early childhood.

SymptomsSymptoms Mental retardation (only present in some types of the Mental retardation (only present in some types of the

condition)condition) Muscle weakness that slowly gets worseMuscle weakness that slowly gets worse

Delayed development of muscle motor skillsDelayed development of muscle motor skills Difficulty using one or more muscle groupsDifficulty using one or more muscle groups DroolingDrooling Eyelid drooping (ptosis)Eyelid drooping (ptosis) Frequent fallsFrequent falls Loss of strength in a muscle or group of muscles as Loss of strength in a muscle or group of muscles as

an adultan adult Loss in muscle sizeLoss in muscle size Problems walking (delayed walking)Problems walking (delayed walking)

Population affectedPopulation affected

Males are more Males are more likely to get MD than likely to get MD than females.females.

MD is transmitted MD is transmitted through the x through the x chromosomechromosome

Males= x + y Males= x + y chromosomeschromosomes

The cause of the defectThe cause of the defect

Muscle cells begin to die because genes Muscle cells begin to die because genes that make proteins that protect muscle that make proteins that protect muscle fibers, become damaged. Making the fibers, become damaged. Making the person weaker and weaker.person weaker and weaker.

The CauseThe Cause

It is genetic.It is genetic.MD is mostly MD is mostly recessiverecessive but there have but there have

been some cases where it has been been some cases where it has been dominant.dominant.

When MD is most commonly When MD is most commonly diagnoseddiagnosed

MD can be diagnosed at any time, but MD can be diagnosed at any time, but most of the time, most of the time, kids with muscular kids with muscular dystrophy follow a normal pattern of dystrophy follow a normal pattern of development during their first few years of development during their first few years of life. life.

But in time common symptoms begin to But in time common symptoms begin to appear. A child who has MD may start to appear. A child who has MD may start to stumble, waddle, have difficulty going up stumble, waddle, have difficulty going up stairs, and toe walk.stairs, and toe walk.

How MD is most commonly How MD is most commonly diagnoseddiagnosed

When first suspecting that a child has muscular When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — a family history, and ask about any problems — particularly those affecting the muscles — that particularly those affecting the muscles — that the child might be having.the child might be having.

The doctor may perform tests to determine what The doctor may perform tests to determine what type of MD is involved and to rule out other type of MD is involved and to rule out other diseases that could cause the problem. diseases that could cause the problem.

They do this by taking many blood tests. They do this by taking many blood tests.

Test to Diagnose Muscular Test to Diagnose Muscular DystrophyDystrophy

Enzyme testsEnzyme testsElectromyographyElectromyography

Muscle biopsyMuscle biopsyGenetic testing Genetic testing

Ways to prevent the diseaseWays to prevent the disease

Genetic counselingGenetic counseling is highly advised if is highly advised if there is a family history with muscular there is a family history with muscular dystrophy.dystrophy.

Women can carry the gene of the disorder Women can carry the gene of the disorder but may show no symptoms.but may show no symptoms.

Duchenne muscular dystrophy can be Duchenne muscular dystrophy can be detected with about 95% accuracy by detected with about 95% accuracy by genetic studies performed during genetic studies performed during pregnancy.pregnancy.

Support GroupsSupport Groups

There are groups that support people with There are groups that support people with muscular dystrophy such as the Jerry Lewis muscular dystrophy such as the Jerry Lewis Telethon where they sell things such as the gold Telethon where they sell things such as the gold and green shamrocks to support those with this and green shamrocks to support those with this illness and try to raise money to come up with a illness and try to raise money to come up with a cure.cure.

Other groups who support people with this Other groups who support people with this disease include the MDA(Muscular Dystrophy disease include the MDA(Muscular Dystrophy Association), Duchenne Muscular Dystrophy Association), Duchenne Muscular Dystrophy Support Group, and the MayoClinic.Support Group, and the MayoClinic.

BibliographyBibliography http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172

// http://http://www.mdausa.orgwww.mdausa.org// http://www.mayoclinic.com/health/muscular-dystrophy/http://www.mayoclinic.com/health/muscular-dystrophy/

DS00200/DSECTION=coping-and-supportDS00200/DSECTION=coping-and-support http://kidshealth.org/parent/medical/bones/http://kidshealth.org/parent/medical/bones/

muscular_dystrophy.htmlmuscular_dystrophy.html http://my.clevelandclinic.org/disorders/http://my.clevelandclinic.org/disorders/

muscular_dystrophy/hic_muscular_dystrophy.aspxmuscular_dystrophy/hic_muscular_dystrophy.aspx http://www.cdc.gov/excite/ScienceAmbassador/http://www.cdc.gov/excite/ScienceAmbassador/

ambassador_pgm/lessonplans/Garcia%20MDambassador_pgm/lessonplans/Garcia%20MD%20Lesson%20Plan.pdf%20Lesson%20Plan.pdf