Muscular Dystrophy

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

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

Symptoms Mental retardation (only present in some types of the condition) Mental retardation (only present in some types of the condition) Muscle weakness that slowly gets worse Muscle weakness that slowly gets worse Delayed development of muscle motor skills Delayed development of muscle motor skills Difficulty using one or more muscle groups Difficulty using one or more muscle groups Drooling Drooling Eyelid drooping (ptosis) Eyelid drooping (ptosis) Frequent falls Frequent falls Loss of strength in a muscle or group of muscles as an adult Loss of strength in a muscle or group of muscles as an adult Loss in muscle size Loss in muscle size Problems walking (delayed walking) Problems walking (delayed walking)

Population affected Males are more likely to get MD than females. Males are more likely to get MD than females. MD is transmitted through the x chromosome MD is transmitted through the x chromosome Males= x + y chromosomes Males= x + y chromosomes

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

The Cause It is genetic. It is genetic. MD is mostly recessive but there have been some cases where it has been dominant. MD is mostly recessive but there have been some cases where it has been dominant.

When MD is most commonly diagnosed MD can be diagnosed at any time, but most of the time, kids with muscular dystrophy follow a normal pattern of development during their first few years of life. MD can be diagnosed at any time, but most of the time, kids with muscular dystrophy follow a normal pattern of development during their first few years of life. But in time common symptoms begin to appear. A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk. But in time common symptoms begin to appear. A child who has MD may start to stumble, waddle, have difficulty going up stairs, and toe walk.

How MD is most commonly diagnosed When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — particularly those affecting the muscles — that the child might be having. When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — particularly those affecting the muscles — that the child might be having. The doctor may perform tests to determine what type of MD is involved and to rule out other diseases that could cause the problem. The doctor may perform tests to determine what type of MD is involved and to rule out other 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 Dystrophy Enzyme tests Enzyme tests Electromyography Electromyography Muscle biopsy Muscle biopsy Genetic testing Genetic testing

Ways to prevent the disease Genetic counseling is highly advised if there is a family history with muscular dystrophy. Genetic counseling is highly advised if there is a family history with muscular dystrophy. Women can carry the gene of the disorder but may show no symptoms. Women can carry the gene of the disorder but may show no symptoms. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.

Support Groups There are groups that support people with muscular dystrophy such as the Jerry Lewis Telethon where they sell things such as the gold and green shamrocks to support those with this illness and try to raise money to come up with a cure. There are groups that support people with muscular dystrophy such as the Jerry Lewis Telethon where they sell things such as the gold and green shamrocks to support those with this illness and try to raise money to come up with a cure. Other groups who support people with this disease include the MDA(Muscular Dystrophy Association), Duchenne Muscular Dystrophy Support Group, and the MayoClinic. Other groups who support people with this disease include the MDA(Muscular Dystrophy Association), Duchenne Muscular Dystrophy Support Group, and the MayoClinic.

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