The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.
Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin.
Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling.
Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.
Is there any treatment?
There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.
What is the prognosis?
The prognosis for people with MD varies according to the type and progression of the disorder. Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.
What research is being done?
The NINDS supports a broad program of research studies on MD. The goals of these studies are to understand MD and to develop techniques to diagnose, treat, prevent, and ultimately cure the disorder.
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
This blog was designed to teach those with disABILITIES that their lives are not over, hopeless, or worthless, but rather an adjustment away from obtaining access to a inspirational life!
Thursday, March 10, 2011
Thursday, March 3, 2011
Wheelchairs And Women
Women in wheelchairs often find that their physical condition can severely limit their choices in clothing in addition to their mobility. Clothing is manufactured which is designed to be comfortable and easy to use for people with mobility problems, but there has been a tendency to design with a "one size fits all" approach, making clothing which cater to any kind of disability without taking style into account. Women in wheelchairs now get around because someone many years ago thought of a great way to provide mobility to those injured or sick. Women in wheelchairs might have been injured in an accident, or they might have a disease such as diabetes that has restricted their physical movement.
Electric wheelchairs have much more comfortable seating areas and have armrests that have a control knob or joystick for controlling the unit's direction and speed. The electric wheel chairs have heavy battery packs that power the powerful electric motor and need to be recharged, usually overnight. Electric wheelchairs are not "green" alternatives to something else. They are wheelchairs with large power supplies that allow disabled people to propel themselves - at a fairly fast clip at top speed (up to 10 mph/ a 6 minute mile, which I'll warrant most of you funny guys couldn't do for any significant distance if at all) - rather than being wheeled manually by someone else. Electric wheelchair is using rubber tracks and high torque electric motors , and manufacturer guarantees that it will take you just about anywhere. Even the urban street and stairs, with a incline accent of up to 45-degrees!!
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
Electric wheelchairs have much more comfortable seating areas and have armrests that have a control knob or joystick for controlling the unit's direction and speed. The electric wheel chairs have heavy battery packs that power the powerful electric motor and need to be recharged, usually overnight. Electric wheelchairs are not "green" alternatives to something else. They are wheelchairs with large power supplies that allow disabled people to propel themselves - at a fairly fast clip at top speed (up to 10 mph/ a 6 minute mile, which I'll warrant most of you funny guys couldn't do for any significant distance if at all) - rather than being wheeled manually by someone else. Electric wheelchair is using rubber tracks and high torque electric motors , and manufacturer guarantees that it will take you just about anywhere. Even the urban street and stairs, with a incline accent of up to 45-degrees!!
"Don't allow your disABILITY to shut you out of life; your request for Access has been Granted"
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