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Health Issues - below are some of the most common health issues. Please feel free to read the information we have collected. Some of this information includes risks, tips, explanations and prevention tips for patients and caregivers.
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Help for Patients and Caregivers : Muscular Dystrophy

Quick reference directory:

What is Muscular Dystrophy?
What are the forms of Muscular Dystrophy?
How do the forms of Muscular Dystrophy differ?
What causes Muscular Dystrophy?
Are Muscular Dystrophies always inherited?
Is Muscular Dystrophy contagious?
Is a family medical history important?
How is Muscular Dystrophy diagnosed?
What are some common diagnostic tests?
Is there any treatment?


What is Muscular Dystrophy?

The muscular dystrophies (MD) are a group of genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. There are many forms of muscular dystrophy, some noticeable at birth (congenital muscular dystrophy), others in adolescence (Becker MD), but the 3 most common types are Duchenne, facioscapulohumeral, and myotonic. These three types differ in terms of pattern of inheritance, age of onset, rate of progression, and distribution of weakness.

Duchenne MD primarily affects boys and is the result of mutations in the gene that regulates dystrophin - a protein involved in maintaining the integrity of muscle fiber. Onset is between 3-5 years and progresses rapidly. Most boys become unable to walk at 12, and by 20 have to use a respirator to breathe.

Facioscapulohumeral MD appears in adolescence and causes progressive weakness in facial muscles and certain muscles in the arms and legs. It progresses slowly and can vary in symptoms from mild to disabling.

Myotonic MD varies in the age of onset and is characterized by myotonia (prolonged muscle spasm) in the fingers and facial muscles; a floppy-footed, high-stepping gait; cataracts; cardiac abnormalities; and endocrine disturbances. Individuals with myotonic MD have long faces and drooping eyelids; men have frontal baldness

What are the forms of muscular dystrophy?

The major forms of muscular dystrophy are myotonic, Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, oculopharyngeal, distal and Emery-Dreifuss.

Some of these names are based on the locations of affected muscles. For example, "facioscapulohumeral" refers to the muscles that move the face, scapula (shoulder blade) and humerus (upper arm bone). Others are based on the type of muscle problem involved ("myotonic" means difficulty relaxing muscles), the age of onset of the disease (as in "congenital," or birth-onset, dystrophy), or the doctors who first described the disease (Duchenne, Becker, Emery and Dreifuss are doctors' names).

As the root causes (gene defects) of the muscular dystrophies are discovered, doctors are beginning to change their thinking about how to classify some of the dystrophies. In some cases, a type of muscular dystrophy that looked like it might be one disease has been found to be several different diseases, caused by several different gene defects. This is true for limb-girdle, congenital and distal dystrophies. In other cases, diseases that looked different have been found to be one disease with variations in severity. This is the case with Duchenne and Becker dystrophies.

How do the forms of muscular dystrophy differ?

They differ in severity, age of onset, muscles first and most often affected, the rate at which symptoms progress, and the way the disorders are inherited.

What causes muscular dystrophy?

Flaws in muscle protein genes cause muscular dystrophies. Each cell in our bodies contains tens of thousands of genes. Each gene is a string of the chemical DNA and is the "code" for a protein. (Another way to think of a gene is that it's the "instructions" or "recipe" for a protein.) If the recipe for a protein is wrong, the protein is made wrong or in the wrong amount or sometimes not at all..

Are muscular dystrophies always inherited?

There is no specific treatment for any of the forms of MD. Respiratory therapy, physical therapy to prevent painful muscle contractures, orthopedic appliances used for support, and corrective orthopedic surgery may be needed to improve the quality of life in some cases. Cardiac abnormalities may require a pacemaker. Corticosteroids such as prednisone can slow the rate of muscle deterioration in patients with Duchenne MD but causes side effects. Myotonia is usually treated with medications such as mexiletine, phenytoin, or quinine.

Is muscular dystrophy contagious?

No. Genetic diseases aren't contagious.

Is a family medical history important?

Yes. Because the muscular dystrophies can be inherited, it's important for the doctor to know if anyone in the family ever had a similar disorder.

How is muscular dystrophy diagnosed?

A doctor makes a diagnosis by evaluating the patient's medical history and by performing a thorough physical examination. Essential to diagnosis are details about when weakness first appeared, its severity, and which muscles are affected. Diagnostic tests may also be used to help the doctor distinguish between different forms of muscular dystrophy, or between muscular dystrophy and other disorders of muscle or nerve.

What are some common diagnostic tests?

Studying a small piece of muscle tissue taken from an individual during a muscle biopsy can sometimes tell a physician whether a disorder is muscular dystrophy and which form of the disease it is.

In Duchenne and Becker muscular dystrophy, a muscle protein called dystrophin is either missing, deficient or abnormally formed. This protein can be examined in the muscle sample.

The reason for the flawed or deficient muscle protein is a flawed gene for dystrophin. A test that involves looking at this gene -- DNA testing -- can be done to diagnose or rule out Duchenne or Becker muscular dystrophies.

Another diagnostic test is the electromyogram (EMG). To do this test, small electrodes are put into the muscle, which allows the doctor to measure the electrical impulses coming from the muscle. The test is uncomfortable.

Another test often performed measures nerve conduction velocity (NCV). During this test, electrical impulses are sent down the nerves of the arms and legs. By measuring the speed of these impulses with electrodes placed on the skin, the doctor can determine whether the nerves are functioning normally. This test is also uncomfortable.

Blood enzyme tests are helpful because degenerating muscles become "leaky." They leak enzymes (proteins that speed chemical reactions), which can then be detected in the blood. The presence of these enzymes in the blood at higher than normal levels may be a sign of muscular dystrophy. One such enzyme is creatine kinase, or CK.The CK level is elevated in many forms of muscular dystrophy, some forms resulting in a higher level than others.

Is there any treatment?

There is no specific treatment for any of the forms of MD. Respiratory therapy, physical therapy to prevent painful muscle contractures, orthopedic appliances used for support, and corrective orthopedic surgery may be needed to improve the quality of life in some cases. Cardiac abnormalities may require a pacemaker. Corticosteroids such as prednisone can slow the rate of muscle deterioration in patients with Duchenne MD but causes side effects. Myotonia is usually treated with medications such as mexiletine, phenytoin, or quinine.

For more information on Muscular Dystrophy visit:

- National Institute of Neurological Disorders and Stroke
- Muscular Dystrophy Association
- Muscular Dystrophy Association FAQ

  • 10 Tips for Family Caregivers
  • Questions to Ask Your Healthcare Provider
  • How to Communicate with an Insurance Provider
  • Find a Doctor
  • Information on Seating & Mobility
  • Tips for Family Caregivers from Doctors
  • Care Management Techniques You Can Use
  • Compare Home Health Agencies in Your Area
  • Keep loved ones connected & updated!
  • Additional Resources


10 Tips for Family Caregivers.

1. Caregiving is a job and respite is your earned right. Reward yourself with respite breaks often.
2. Watch out for signs of depression, and don’t delay in getting professional help when you need it.
3. When people offer to help, accept the offer and suggest specific things that they can do.
4. Educate yourself about your loved one’s condition and how to communicate effectively with doctors.
5. There’s a difference between caring and doing. Be open to technologies and ideas that promote your loved one’s independence.
6.Trust your instincts. Most of the time they’ll lead you in the right direction.
7. Caregivers often do a lot of lifting, pushing, and pulling. Be good to your back.
8. Grieve for your losses, and then allow yourself to dream new dreams.
9. Seek support from other caregivers. There is great strength in knowing you are not alone.
10. Stand up for your rights as a caregiver and a citizen.

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Tips for Family Caregivers from Doctors

•   Write questions down so you won’t forget them.
•   Be clear about what you want to say to the doctor. Try not to ramble.
•   If you have lots of things to talk about, make a consultation appointment, so the doctor can allow enough time to meet with you in an unhurried way.
•   Educate yourself about your loved one’s disease or disability. With all the information on the Internet it is easier than ever before.
•   Learn the routine at your doctor’s office and/or the hospital so you can make the system work for you, not against you.
•   Recognize that not all questions have answers—especially those beginning with “why.”
•   Separate your anger and sense of impotence about not being able to help your loved one as much as you would like from your feeling about the doctor. Remember, you are both on the same side.
•   Appreciate what the doctor is doing to help and say thank you from time to time.

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Care Management Techniques You Can Use
Did you ever wish you could just pick up the phone and call someone who would take stock of your situation, help you access the right services, counsel you and your family to help resolve some of your differences, then monitor your progress with an eye toward channeling your energy and abilities as effectively as possible? If your answer is “yes,” you’re not alone. Having the help of a care coordinator (often called a care manager) could make all of our lives easier and less lonesome, and help us be more capable family caregivers. While most of us may not have access to a care coordinator, we can all learn how to think and act like one, thereby reaping numerous benefits for our loved ones and ourselves.

What Is Care Coordination?
Although every case is different, the care coordination approach usually involves:

•   Gathering information from healthcare providers;
•   An assessment of your care recipient and the home environment;
•   Research into available public and/or private services and resources to meet      your loved one’s needs; and
•   Ongoing communication between all parties to keep information up to date      and services appropriate and effective.

Unfortunately, an assessment of your abilities and needs is not necessarily a standard part of the process, but it should be. A complete view of the situation cannot be gained without one. An objective analysis of your health, emotional state, other commitments, etc., are key elements in determining how much you can and cannot do yourself, and what type of outside support is needed to ensure your loved one’s health and safety.

Become Your Own Care Coordinator
By learning and applying at least some of the care coordination techniques and ideas that follow, you’ll be in a much better position to develop an organized course of action that will, hopefully, make you feel more confident and in control — a goal well worth working toward.

Educate yourself on the nature of the disease or disability with which you’re dealing. Reliable information is available from the health agency that deals with your loved one’s condition and the National Institutes of Health. When using the Internet, stick with wellknown medical sites. Understanding what is happening to your care recipient will provide you with the core knowledge you need to go forward. It will also make you a better advocate when talking with healthcare professionals.

Write down your observations of the present situation including:

•   Your loved one’s ability to function independently, both physically and mentally.
•   The availability of family and/or friends to form a support network to share the care.
•   The physical environment: Is it accessible or can it be adapted at reasonable cost?
•   Your other responsibilities — at work, at home, and in the community.
•   Your own health and physical abilities.
•   Your financial resources, available insurance, and existence of healthcare or end-of-life documents.

This assessment will help you come to a realistic view of the situation. It will let you know the questions to which you need answers. It can be a handy baseline for charting your caregiving journey and reminding you just how much you’ve learned along the way.

Hold a family conference. At least everyone in the immediate family should be told what’s going on. A meeting can set the stage for divvying up responsibilities so that there are fewer misunderstandings down the road when lots of help may be needed. A member of the clergy, a professional care coordinator, or even a trusted friend can serve as an impartial moderator. A family meeting is a good way to let everyone know they can play a role, even if they are a thousand miles away. It can help you, the primary family caregiver, from bearing the brunt of all the work all of the time.

Keep good records of emergency numbers, doctors, daily medications, special diets, back-up people, and other pertinent information relating to your loved one’s care. Update as necessary. This record will be invaluable if something happens to you, or if you need to make a trip to the ER. If you can maintain a computer-based record, that will make updating all that much easier and it might even allow you to provide the medical team with direct access to the information.

Join a support group, or find another caregiver with whom to converse. In addition to emotional support, you’ll likely pick up practical tips as well. Professionals network with each other all the time to get emotional support and find answers to problems or situations they face. Why shouldn’t family caregivers?

Start advance planning for difficult decisions that may lie ahead. It’s never too early to discuss wills, advance directives, and powers of attorney, but there comes a time when it is too late. It is also vital that you and your loved one think through what to do if you should be incapacitated, or, worse, die first. It can happen.

Develop a care team to help out during emergencies, or over time if your situation is very difficult. In an ideal world there will be lots of people who want to help. More likely you’ll be able to find one or two people to call on in an emergency or to help with small chores. The critical thing is to be willing to tell others what you need and to accept their help.

Establish a family regimen. When things are difficult to begin with, keeping a straightforward daily routine can be a stabilizer, especially for people who find change upsetting and confusing.

Approach some of your hardest caregiving duties like a professional. It’s extraordinarily difficult to separate your family role from your caregiving role, to lock your emotions up in a box while you focus on practical chores and decisions. But it is not impossible to gain some distance some of the time. It requires an almost single-minded approach to getting the job at hand done as efficiently and effectively as possible. It takes practice, but is definitely worth the effort.

©National Family Caregivers Association | | Phone: 800/896-3650

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Seating & Mobility - As a caregiver, you need to be very understanding to the individuals needs. This is a very hard time as they are being told they need to start living their life in a different manor than they had done so previously. It will be most beneficial to educate them, either with a professional, or through a support group. Getting them involved in different activities with others in the same condition, the individual will be able to make the transition much easier. As far as the actual device, you will want to make sure that the individual is fully capable of performing all the operations of the mobility device and can do so in a comfortable manor. Areas to pay close attention to include an adjustable backrest, a suspension system, a fore-and-aft track adjustment, an up-and-down seat adjustment, an armrest and/or footrest, and lumbar region support.

How do you care for your mobility device?

The most important areas that you need to pay attention to are referred to as the 3 B’s…Bad batteries, bent wheel rims and failed bearings. If you notice something that doesn’t seem right, but it isn’t all too annoying, you should still get it looked at right away. This could prevent a more severe accident from happening. So as the saying goes “it’s better to be safe than sorry”.

When a wheelchair is purchased, you will want to make sure that all the correct adjustments and modifications are made. This needs to be done by a professional and should take up to a couple of hours if done correctly. As long as the proper measures are taken initially, the work of maintaining the device will be substantially easier.

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Additional Resources

It's always wise to find out what your county and state have to offer in the way of services, even if you think you won't qualify for them. Check the blue pages of your phone book for the numbers, or go on line. Counties and states all have web sites. Type the name of your state or county and state into any major search engine i.e. Iowa, or Montgomery County, PA. Navigate from there to locate the Department of Health and Human Services and the specific office most relevant to your needs such office on disabilities, elder affairs, or material and child health.

Other good sources of information include your local hospital or clinic (social work department), area adult day centers, social service and faith-based agencies, and/or the local chapter of the health agency that focuses on your loved one's condition. It is by no means certain that any of these will offer caregiver support services, but they are good places to check, and they are good sources for information about services to directly support your loved one.

National Family Caregivers Association
10400 Connecticut Avenue, Suite 500
Kensington, MD 20895
Web site:

The National Family Caregivers Association (NFCA) is a grassroots organization created to educate, support, empower and advocate for the millions of Americans who care for chronically ill, aged, or disabled loved ones. NFCA is the only constituency organization that reaches across the boundaries of different diagnoses, different relationships and different life stages to address the common needs and concerns of all family caregivers. NFCA serves as a public voice for family caregivers to the press, to Congress and the general public. NFCA offers publications, information, referral services, caregiver support, and advocacy.

Caregiver-Specific Web Sites
There are a variety of Web sites that offer information and support for family caregivers, in addition to those from specific organizations.


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