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

Muscular dystrophy (MD) refers to a group of more than 30 inherited diseases that cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood, while others may not appear until middle age or later. The different muscular dystrophies vary in who they affect and the symptoms. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk.

There is no single disease called muscular dystrophy. The term designates a group of hereditary muscle-destroying disorders that vary in inheritance pattern, age of onset; initial muscles attacked describe and rate of progression.

The most common and severe type is Duchenne's muscular dystrophy (MD), in which a genetic defect leads to the formation of an abnormal type of muscle protein called dystrophin.

CAUSES, INCIDENCE AND RISK FACTORS

Muscular dystrophies, or MD, are a group of inherited conditions, which means they are passed down through families. They may occur in childhood or adulthood. There are many different types of muscular dystrophy.

Muscular dystrophy is a genetically determined disease, although why the individuals who are genetically the same get MDs of different severity is not known.

SYMPTOMS

Symptoms vary with the different types of muscular dystrophy.

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.

In Duchenne's MD, delayed development of basic muscle skills and coordination in children. Common signs include poor balance with frequent falls, walking difficulty with waddling gait and calf pain, and limited range of movement

Principal symptoms include:

Obesity, Joint contractures

Symptoms include:

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

SIGNS AND TESTS

The diagnosis of MD is based upon a combination of a characteristic clinical presentation and the results of muscle biopsy.

A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.

A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.

Other tests may include:

• Heart testing - electrocardiography (ECG)
• Nerve testing - electromyography (EMG)
• Blood testing - including CPK level
• Genetic testing for some forms of muscular dystrophy

TREATMENT

There is no specific treatment to cure or halt MD. Physical therapy, exercise, orthopedic appliances (such as braces and wheelchairs), or corrective orthopedic surgery may help to preserve muscle function and prevent joint contractures as much as possible and improve quality of life. Steroids have been used to slow disease progression, but do not effect the final outcome. Identification of the specific genes responsible for the various types of MD has led to extensive research on gene and molecular therapy, but all such treatments are still experimental.

Genetic counseling is recommended for families of affected individuals to ascertain the carrier status of other family members so that prenatal testing can be offered.

There are no known cures for the various muscular dystrophies. The goal of treatment is to control symptoms.

Corticosteroids taken by mouth are sometimes prescribed to children to keep them walking for as along as possible.

The person should be as active as possible. Complete inactivity (such as bed rest) can make the disease worse.

There is no cure for muscular dystrophy. Treatments include physical and speech therapy, orthopedic devices, surgery and medications. Some people with muscular dystrophy have mild cases that worsen slowly. Other cases are disabling and severe.

PROGNOSIS

The severity of disability depends on the type of muscular dystrophy. All types of muscular dystrophy slowly get worse, but how fast this happens varies widely.

Some types of muscular dystrophy, such as Duchenne muscular dystrophy, are deadly. Other types cause little disability and people with them have a normal lifespan.

COMPLICATIONS

• Cardiomyopathy
• Decreased ability to care for self
• Decreased mobility
• Lung failure
• Tightening of muscles around the joints (contractures)
• Mental impairment (varies)
• Scoliosis

WHEN TO CALL YOUR DOCTOR

 Call your health care provider if:

• You have symptoms of muscular dystrophy.
• You have a personal or family history of muscular dystrophy and you are planning to have children.

PREVENTION

Genetic counseling is advised when there is a family history of muscular dystrophy. Women may have no symptoms but still carry the gene for the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy.

 

 

 

 

 

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