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Inventor, entrepreneur, father, medical device manager.

Estate Planning

Overview Of Estate Planning Issues by Lawrence A. Frolik, J.D., L.L.M Professor of Law University of Pittsburgh, School of Law


When parents have a son or daughter with any type of disability, they must plan their estates carefully to best benefit that child. How parents leave their assets after death may greatly affect the quality of life for their son or daughter with special needs. This article presents basic information to help parents begin considering the very important issues involved in developing an estate plan when the future of a son or daughter with a disability must be taken into account.

Many families believe that they have so few assets that an estate plan is not necessary. This is not true. We often have more assets than we realize, although some assets may become important only after our death. The most notable asset of this type is life insurance. Therefore, whether you consider yourselves a family of substantial means or with little or no assets, estate planning should be done.

How the Type of Disability Affects Estate Planning
Disabilities, of course, can take many forms and have varying degrees of severity. The nature and severity of your child’s disability will affect the nature of the estate plan that you, as parents, develop.

Physical disabilities or health impairments. Many individuals have physical disabilities or health impairments that do not affect their ability to manage financial or other affairs. If your son or daughter has such a condition, how to leave your estate depends on a number of factors. The primary factor will be whether or not your son or daughter receives (or may one day need to depend on) government benefits such as Supplemental Security Insurance (SSI), subsidized housing, personal attendant care, or Medicaid. If your child does receive (or may one day need to depend on) government benefits, then it is most important to create a special estate plan that does not negate his or her eligibility for those benefits. How to do this is discussed in some detail in this NEWS DIGEST.

On the other hand, you may have a son or daughter with a physical disability or health impairment who is not eligible for or who is not receiving government benefits. In this case, you may be able to dispense with elaborate planning devices and merely leave your child money outright, as you would to a nondisabled child. If you believe that the disability may reduce your son or daughter’s financial earning capability, you may want to take special care to leave a greater portion of your estate to this child than to your nondisabled children.

There are some exceptions to this simplified approach, of course. One exception is when parents are somewhat fearful of their son or daughter’s financial judgment. If you are concerned that your son or daughter with a disability may not responsibly handle an inheritance, then you can utilize a trust, just as you would for a nondisabled heir. Another exception is if your child’s disability or health impairment involves the future possibility of deteriorating health and more involved health care needs. While your son or daughter may be capable of earning money and managing an inheritance at present or in the immediate future, in twenty or thirty years time deteriorating health may make it difficult for him or her to maintain employment or pay for health care. Government benefits might then become critical to your child’s security. Remember, benefits include much more than money; your child may also be eligible for valuable services such as health care, vocational rehabilitation, supported employment, subsidized housing, and personal attendant care. If, however, he or she acquires too many assets through inheriting all or part of your estate, he or she may be ineligible for these benefits. Therefore, in order to protect your son or daughter’s eligibility for government benefits at some point in the future and to provide for his or her long-range needs, you may need to consider establishing a special estate plan.

Cognitive disabilities or mental illness. If your son or daughter’s disability affects his or her mental capability, the need to create a special estate plan is more clearcut. Mental illness and cognitive disabilities often impair a person’s ability to manage his or her own financial affairs, while simultaneously increasing financial need. As a result, you must take care to ensure that there are assets available after your death to help your son or daughter, while also providing that the assets are protected from his or her inability to manage them. More information will be given later in this article about various ways to accomplish this. First, however, let us take a look at some basic information about wills and why a will is so important.

Writing a Will
All parents, but particularly parents of individuals with disabilities, should have a will. The object of the will is to ensure that all of the assets of the deceased parent are distributed according to his or her wishes.

If at death you have no will, your property will be dispersed according to the law of the state in which you live at the time of your death. This law is called the state’s law of intestacy. Although laws of intestacy vary from state to state, in general they provide that some percent of assets of the decedent passes to the surviving spouse and the rest is distributed to the children in equal shares. Writing a will is highly recommended, since the laws of intestacy are rarely the most desirable way to pass property to one’s heirs.

Although it is theoretically possible for any individual to write a will on his or her own, it is unwise to do so. Because of the technical nature of wills, it is highly advisable to have a lawyer prepare one. Parents of individuals with disabilities particularly need legal advice, because they often have special planning concerns. If you do not have a lawyer, you can call the local bar association, which will provide you with the name of an attorney in your vicinity. It is preferable, however, to contact a local disabilities group, which may be able to put you in contact with an attorney familiar with estate planning for parents of persons with disabilities. Not all lawyers are familiar with the special needs associated with caring and providing for individuals with disabilities. Before you hire a lawyer, be sure to find out if he or she has ever prepared estates for other parents who have sons or daughters with disabling conditions. If the lawyer has not, it is best to find a more experienced attorney. The cost of an attorney varies according to the attorney’s standard fee and the complexities of the estate. The attorney can quote you a price based upon an estimation of the work. If the price quoted is beyond your immediate means, it may be possible to negotiate a payment plan with the attorney, whereby you pay over time.

When making a will, however, remember that not all the assets you control are governed by a will. Joint property with right of survivorship, for example, passes independently of a will. If, for example, Tim and Sarah own a house as joint owners with rights of survivorship, upon Tim’s death Sarah automatically inherits the house without regard to what Tim’s will might say. Similarly, life insurance is paid out to the named beneficiary without regard to the will. The insurance is a contract between the owner and the insurance company, and the insurance company must pay the insurance to whomever the owner states. Many individuals have death benefits under an employer-provided pension plan. These, too, are not governed by the will but are paid to whomever the employee has designated. (Note: If you create a special estate plan to provide for your child with a disability — in particular, if you set up a special needs trust — review any life insurance policies you have purchased, and be sure that you have not designated your child as a beneficiary. The same is true for relatives who may have designated your child as the beneficiary of their policies.)

Personal property, such as clothing, furniture, and household effects, should be distributed by the will independently of the often more valuable assets such as stocks, bonds, and real estate. Personal property is often of great sentimental importance, but may have little financial value. To avoid disharmony after the death of the last parent, it is generally a good idea to make an equal division of the personal property among the children. In some cases, the parents may wish not to include the child with the disability in the division, particularly if that might disqualify this person from government benefits. However, in most cases it is advisable to leave the person with a disability a share of the personal property so that he or she does not feel excluded.

Remember, a will goes into effect only upon the death of the person who created it. Until death, the creator of the will can freely revoke, alter, or replace it.

How To Start Planning Your Estate: What to Consider
When parents have a son or daughter with a disability, they should give careful consideration to developing an estate plan that provides for that person’s future best interests. Here are some suggestions that can help parents approach planning their estate when a son or daughter with a disability must be taken into consideration.

First: Realistically assess your son or daughter’s disability and the prognosis for future development. If necessary, obtain a professional evaluation of your child’s prospects and capability to earn a living and to manage financial assets. If your son or daughter is already an adult, you should have a fairly clear understanding of his or her capabilities. But if your child is younger, it may be more difficult to predict the future. In such cases, you should take a conservative view. It is better to anticipate all possibilities, good and bad, in such a way that you do not limit your loved one’s potential or set him or her up for unrealistic expectations. Remember, too, that you can change your estate plan as more information about your child becomes available.

Second: Carefully inventory your financial affairs. Estimate the size of your estate (what you own) if you should die within the next year or the next ten years. Keep in mind that the will you write governs your affairs at the time of your death, and so it must be flexible enough to meet a variety of situations. Of course you can always write a new will, but you may never actually write it due to hectic schedules, procrastination, or oversight. Thus, the will you have written must have sufficient flexibility to meet life’s everchanging circumstances.

Third: Consider the living arrangements of your son or daughter with a disability. Your child’s living arrangements after your death are of paramount importance. Every parent of an individual with a disability should give thought to the questions, “If my spouse and I should die tomorrow, where would our child live? What are the possibilities available to him or her?” The prospective living arrangements of your son or daughter will have a tremendous impact on how your estate should be distributed. Involved in answering the question of living arrangements is whether or not your child will need a guardian or conservator to make decisions for him or her after your death. If you conclude that a guardian or conservator is necessary, you should be prepared to recommend a potential guardian or conservator in your will.

Fourth: Analyze the earning potential of your son or daughter. It is important to determine how much your child can be expected to contribute financially, as a result of employment. If he or she is currently employed, does this employment meet all of his or her living expenses, or only some? If your child is presently too young to be employed, you will have to project into the future. In many cases, even if your son or daughter is employed or expected to be employed at some point in the future, he or she will require additional financial assistance.

Fifth: Consider what government benefits your son or daughter needs and is eligible to receive. Support for a person with a disability will usually come from state and federal benefits. These might be actual case grants, such as social security or supplemental security income, or they might be in-kind support programs, such as subsidized housing or sheltered workshop employment.

In brief, government benefits can be divided into three categories. First are those categories that are unaffected by the financial resources of the beneficiary. For example, social security disability insurance (SSDI) beneficiaries receive their benefits without regard to financial need. Regardless of what the parents leave to a son or daughter with a disability, the social security payments will still be forthcoming once the person has qualified for them.

Second, some government benefits, such as supplemental security income (SSI) and Medicaid, have financial eligibility requirements. If a person with a disability has too many assets or too much income, he or she is not eligible to receive any or all of these benefits. Someone who is eligible due to a lack of financial resources can become ineligible upon inheriting money, property, or other assets. This would lead to a reduction or termination of the SSI benefits for that person. Therefore, if your son or daughter is receiving government benefits that have financial eligibility requirements, it is important to arrange your estate in a manner that will minimize his or her loss of benefits, especially SSI or Medicaid.

Finally, there are government programs available to individuals with disabilities where payment for services is determined according to the person’s ability to pay. Many states will charge the individual with a disability for programmatic benefits if he or she has sufficient assets or income. The most striking is the charge that can be levied against residents of state mental institutions. For example, if a resident of a state hospital inherits a substantial sum of money, the state will begin charging the resident for the cost of residency in the state hospital and will continue to charge until all the money is exhausted. Yet the services provided will be no different from the ones that he or she was previously receiving.

Establishing a Will: Four Possible Approaches
Having decided what your son or daughter needs and what you own, you can now consider how best to assist him or her. There are four possible ways to do so.

First, you can disinherit your son or daughter with the disability. No state requires parents to leave money to their children, disabled or not. If your assets are relatively modest and your son or daughter’s needs relatively great, the best advice may be to disinherit your child by name and have him or her rely upon federal and state supports after your death. This may be the wisest decision, particularly if you wish to help your other children. Instead of complete disinheritance, you might leave your son or daughter with a disability a gift of modest but sentimental value, such as his or her bedroom furniture. The value of the gift will be small enough not to affect government benefits, but it will indicate your love and concern.

Second, you can leave your son or daughter with a disability an outright gift. For example, suppose your son Tom has a physical disability. You might write a will that states, “I leave one-third of my estate to my son, Tom.”

If your child with a disability is not receiving (and is not expected in the future to need) government benefits, this may prove to be a desirable course of action. Your son or daughter, if mentally competent, can hire whatever assistance he or she needs to help with managing the gift. But if your son or daughter has a mental illness or cognitive disability, an outright gift is never a good idea, because this person may not be able to handle the financial responsibilities. If you want to leave a gift to support your child, the use of a trust is far preferable.

Third, you can leave a morally obligated gift to another of your children. Suppose, for example, that the parents have two children: James, who has mental retardation, and Mary, who has no disabilities. The parents leave all of their assets to Mary. Legally, Mary now owns all of the parents’ assets and James owns nothing. But prior to their deaths, the parents told Mary that, although they are leaving everything to her, they expect her to use at least half of the money to assist James in whatever way Mary thinks best. They left the money to Mary, because they do not wish James to lose his government benefits, and they think that there are ways that Mary could use the money to help her brother. For example, Mary might provide special gifts to James on holidays or pay for special assistance for James that would not be provided by the government benefit programs. The gift is a moral obligation to Mary, because legally she can ignore the parents’ wishes and do whatever she wants with the money: It is hers. It is only her conscience that guides her. After the parents’ death, if Mary chooses to ignore James and use the money for herself, there is nothing James or anyone else can do about it. Morally obligated gifts are often used by parents with modest-sized estates for whom a trust does not seem desirable. The danger of morally obligated gifts is, of course, that the morally obligated recipient — in our example, Mary — may ignore the wishes of the parents. Even if Mary does not deliberately ignore the obligation, she may encounter circumstances that make it impossible for her to carry out her parents’ wishes. Suppose, for example, that Mary or her children become ill or are in great financial need. She may feel under pressure to use the money for her own family, even if it means that James goes unhelped. Moreover, if Mary dies before James, it is possible that Mary’s family will not carry on the duty to help James. Finally, in case Mary is divorced, the money may be lost to her former spouse in a settlement.

Morally obligated gifts, therefore, are not a complete solution. They can be useful, however, especially when the parents have a modest amount of money and do not expect a lifetime of care for their son or daughter with a disability. Rather, they merely want their nondisabled sons or daughters to use some of the inherited money to assist their sibling with special needs.

Fourth, you can establish a trust for your son or daughter with a disability. For many parents who have a child with disabilities, the use of a trust is the most effective way to help that individual. The point of a trust is to keep assets in a form that will be available to your son or daughter but that will not disqualify him or her for government benefits for which he or she might otherwise be eligible.

The article in this NEWS DIGEST entitled “The Special Needs Trust” discusses in some detail what a trust is, the circumstances under which a trust is advisable, and issues to consider when establishing a trust.

In A Parent’s Words
It had been in the back of my mind for years, soon after I found out my son Samuel had this lifelong disability. What would the future hold for him when I wasn’t there anymore to be his advocate, friend, and supporter? It was both a big and little worry. Big, because it gave me a hole in my gut whenever the questions crept in. And little, in the sense that I tried not to think about it. I’d think: I’ll worry about that tomorrow, next week, when he’s older, when I’m older.

Of course, I’ve done things to prepare Samuel for that future he’s going to have without me, things like teaching him how to wash clothes and shop. But could I write a will? Make an estate plan? No, for years, I dodged that one totally.

Then, when his voice started to change, it suddenly hit me that he was growing up, that he was older now. That future I was always worrying about, and refusing to worry about, was beginning to arrive. I talked with my husband, and I found out he’d been worrying about Sam’s future, too. So he and I went to our lawyer. I was so nervous, to bring all the questions out in the open and look at them. No wonder I’d shoved them under the bed for so long!

But you know, it’s funny. Now that we’re finished setting up our estate and only need periodically to review our plans, I feel like an enormous burden has been lifted up from me. The big, black, scary shadow is gone. Well, not totally gone, I suppose. I still worry about Samuel, what will happen to him in his life. I guess every parent does that. But now I don’t worry in the same way. I know I’ve done all I can do for that part of his future, something that was extremely important to do, and I am very relieved. Now I feel like we can deal fully with the present day and see to the other things that need to be done to prepare Samuel for life as a man. And that’s very exciting.

Fatigue

DEALING WITH FATIGUE CAUSED BY MYOTONIC DYSTROPHY

This is based on a lecture delivered at the yearly meeting organized in October 2000, in the Netherlands, by the “Werkgroep Myotone Dystrofie” for patients and other people involved in myotonic dystrophy. Dr. Karlein Schreurs, Health Psychology, University of Utrecht, prepared this lecture. Email to the coordinator of this group: cees.duijndam@wanadoo.nl

Introduction
The work group asked me to prepare a lecture about dealing with fatigue. So I expect that fatigue is a problem for the majority of my audience. The Muscular Disease Association of The Netherlands (VSN) also publishes this. Out of 900 articles on MD (Myotonic Dystrophy) published during the last three years in the international press, eleven were dealing with fatigue. It is obviously a serious problem for many patients but up till now few research-workers pay attention to it. From where is this discrepancy?

Apparently many patients with MD consider fatigue as a symptom that is part of the disease and cannot be cured. I do hope that I can convince you that this is not always true. It is indeed possible to take measures.

A second explanation for this lack of attention for fatigue with MD is the fact that it is difficult to define fatigue.

What is fatigue?

The question seems superfluous. Everybody knows how fatigue feels. However, often we do not mean the same thing. Normally we think of fatigue when a person has worked hard and consequently is physically exhausted. This fatigue is the lack of energy that someone experiences after performing physical exertion. But also people who have been behind their desks for a whole day may complain of tiredness in the evening. At the end of the day they often think it difficult to concentrate and they forget things easier. These too are manifestations of fatigue after mental stress. A person who is bored feels also tired. After a serious flue you may be unpleasantly caught when daily tasks require more effort than usual. Here fatigue is caused by deterioration of one’s physical condition. We can also think of periods when we feel down and sad. We are not in the mood to undertake things because we feel tired. Here fatigue is caused by one’s emotional mood. Finally it appears that fatigue varies from not feeling fit to total exhaustion. In conclusion, we seem to generalize when we speak of fatigue. Fatigue however is a collective noun for an extensive range of varieties.

Countermeasures that fight with success a certain type of fatigue may fail if they are used to fight another type. Here we should make difference between short acute fatigue and long-term chronic fatigue. The differentiation is not only based on the duration of the fatigue. Opposed to short acute fatigue long-term fatigue is often not related to the degree of exertion. A person feels physically tired or finds it difficult to concentrate irrespective of the amount of effort; taking a rest mostly does not cure this type of fatigue. A frequently used questionnaire for fatigue differentiates between physical and mental fatigue and the consequences of fatigue: A slowing down of activities, but also a decrease in willingness to be active (reduced motivation). (Smets e.a. 1995).

Causes
What causes fatigue in people with MD?  This is an unclear area; often more causes can be identified. Muscle-weakness is a symptom of the disease; the disease causing slowness, apathy and lack of initiative may also affect the brains.read more

The physical vicious circle

The normal reaction to physical fatigue is rest. Rest does not help when fatigue has a chronic nature. As rest is the accepted remedy for tiredness, most people will rest even more than usual, also influenced by their environment. They hardly have any physical activity. This inactivity deteriorates their physical condition. In this situation any form of activity tires more quickly. The result leads to diminished activity and means therefore less diversion; this now causes the patient to feel more tired. This circle may be broken up by an adapted daily routine. Attention: This routine does not mean to stop completely taking a rest. We are talking of alternation of activities and rest, adapted to the physical abilities. The muscle weakness and loss of power with MD may complicate it even more. Some muscles are weak and it was found that muscle-reinforcing exercises almost not effect the affected muscles (Lindeman, Spaans, Reulen, Leffers, Drukker, 1999). But it came out that exercises do not harm. It is important to exercise the not-affected muscles to optimise their condition without entertaining unreal expectations.

The psychological vicious circle

The second vicious circle relates to psychological factors, which either maintain or intensify fatigue.  If someone feels tired very often he or she may find out that resting hardly helps and therefore it seems that fatigue can hardly be managed.  This leads to low spirits and helplessness.  This depression makes people less inclined to be active and this will result in less activity and less diversion causing a person to feel totally overpowered by fatigue.  In this case looking for control over the situation can break a circle.

It is well known that controlling their situation helps people to feel well.  Often people feel less depressed and it helps to organise the day-to-day routine.  As soon as people pursue a more active lifestyle, social contacts and activities will increase resulting in reduced focus on fatigue.

Remedies
You may wonder how to control the situation.  There are no instant solutions but there are a few approaches.  A first way to get some control is to identify the effects of fatigue, is there a medical solution? read more

Conceptions
Research among people with a chronic fatigue syndrome shows that fatigue is intensified and maintained by high standards and strong principles. Demanding people who are perfectionists run the risk of trying to pursue the impossible, which will exhaust them. This regards principles like: “Everything I do should be perfect, or “Whatever I start I’ll finish it” or “I never reject my duty”. Such principles may seem commendable, but if your energy is limited there will be nothing left after fulfilling the duty. There is nothing wrong when splitting up a job in several pieces. We are often not aware that our behaviour is controlled by this attitude. If you feel unhappy and you find out that you are feeling chased, it is worth while to try to find the cause of those feelings. You may ask yourself questions on the consequences of your conceptions and on your willingness to pay the price for such behaviour

Social aspects

Your partner is also facing the consequences of your disease. The partner wishes to support but is also troubled by fear, concern and helplessness.

When you leave your house by yourself for the first time after a long period of time, your partner may get very anxious about it. Also your partner may think to help you by doing every little job for you. This will make you less active than actually necessary. Discuss such matters with your partner.Finally it is well known that people with a chronic disease tend to withdraw from social life. Fatigue reinforces this tendency. This will deprive you of possible diversion, which again does not help to overcome fatigue and other symptoms. You will also miss possible support, which other people might give you. It is true that people may sometimes react improperly to your fatigue. If you show that you are tired often people will say: “All of us get tired from time to time.” Then the choice is yours: You withdraw from social life because nobody seems to understand you or you explain people that your form of fatigue is different from the usual short fatigue.

With this choice we come back to the beginning of my thesis: “Fatigue may be a symptom of Myotonic Dystrophy but this does not mean that nothing can be done”.Everybody can manage fatigue and its consequences better than you might think, hut this does not occur automatically.

FATIGUE DIARY

Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities
Date
Period M A E M A E M E A M E A M E A M E A M E A
3 exhausted
2 tired
1 unfit
Medication
Activities

Feeding Problems

FEEDING PROBLEMS

Many people have contacted us and have expressed concern and interest in feeding issues for people with CMD or Myotonic Dystrophy. Some case studies might give some insight into these issues. Your clinic may not have this updated information, but it’s important to take these issues seriously and discuss them with your doctor!

What is clear is that feeding is a very difficult issue for many people with myotonic and congenital myotonic dystrophy. The regular rules and concepts that people think about can not be applied here. Kids and adults have muscle problems associated with chewing and swallowing. Apparently with certain individuals there are very intense problems with the digestive system, as well. Most doctors will never see a case of myotonic dystrophy and even many experts rarely see a case of congenital myotonic dystrophy. So the resource base on which parents can draw from is virtually nil.

The problems with congenital myotonic dystrophy are compounded by the onset of the adult form, for most patients this occurs in the early teen years. Thus, there is a combination of both the congenital and the early onset of the adult form that might be the cause of these problems.

Thus, the parent is alone to deal with a very difficult situation that they do not understand. Here are a few cases that might shed some light on these difficulties.

Financial Issues

FINANCIAL INFORMATION

Families that have children with Myotonic Dystrophy will face special financial challenges. These challenges can be best separated into short term and long term needs. Short term needs will be day to day living expenses. Long Term goals are dealing with a child who may need to have individual care for a lifetime. Both of these needs are important. Lets review some options:

DAY TO DAY LIVING EXPENSES There are many medical bills that will challenge a family financially. This is when a good insurance policy will be needed. Families with CMyD will need to insure that they have a good medical plan. Because of the expenses with CMyD this is an overriding factor. Even with the best of policies not everything will be covered in these days of managed care in the USA. If both spouses are working and have coverage this is ideal. You should realize that in changing jobs your policy will change. You need to explore how much the medical program covers and to insure that the new program will cover your child. Some programs will exempt existing conditions. You will need to actively explore what other means are available to pay bills. Some options to explore are state programs, Shriners Hospitals, Medicare if qualified, Birth to 3 Programs when young, and alternative programs. It’s possible that your child may qualify for Supplemental Social Security Income (SSI) in the USA. Also some states have programs that will make cash payments to families that have disabled children.

LONG TERM FINANCIAL PLANNING: You need to analyze your financial situation. You need to insure that the family can survive if the breadwinner dies or becomes disabled. You may need to have additional life insurance. It’s more likely that a short term disability may occur over a few months or years.  How will the family cope with this? A good disability policy is mandatory if this occurs. You also need to review life insurance. Term Life insurance is less expensive in the short term but increases in the long term. You may want to review universal life policies for each spouse. You will have to review your financial situation to determine what would be best for you. Check with your medical insurance carrier to see if the child would be covered after age 18. Some policies and states require that coverage be extended to family members with disabilities.

It helps if both spouses are working and able to achieve coverage. Companies change coverage from time to time. Make sure during this change that they will still cover your child long term. You may need to establish a special trust to insure that your disabled child will receive the benefits of an inheritance. Generally any assets the child has upon reaching age 18 will be tapped first for any governmental programs. This means that any money left to the child would be “seized” by the state to pay for basic care. Many parents have set up “special needs” trusts that allow the child to benefit from money you may leave. This needs to be carefully drafted by a specialist in this area. Other relatives that may leave money to the child such as grandparents and others and should be advised to leave money to the “trust” and not the child. If necessary, you will need to have a guardian named for your child if they are not competent upon reaching age eighteen. Some law firms that specialize in these coverage’s advertise in Exceptional Parent Magazine.

Genetic Information

GENETIC INFORMATION


There are  two types of Myotonic Dystrophy
 
DM1 is known as Type 1
DM2 is known as Type 2, and also known as PROMM or “Proximal Myotonic Myopathy
 
DM1 is caused by an expanded repeat of CTG on Chromosome 19
DM2 is caused by an expanded quadruplet repeat of CTG on Chromosome 3
 
Differences in DM1 and DM2
 
DM2 does not seem to cause the severe congenital form when the mother that has the disease has an infant. Also the apathetic personality traits with DM1 do not seem to be associated with DM2. People with DM2 will have more weakness in the trunk of the body (proximal) versus DM1 will have more weakness in the distal parts of the body like legs and arms. The incidence of DM2 is unknown. There is a genetic test for DM2 just available from Athena Diagnostics. Estimation is that the incidence is less than 2% (QUEST Feb 2002) but it may be much higher.
 
 
 
A deficient gene causes DM1.  This is an alteration in the myotonin protein kinase gene, specifically in the APOC2 locus located on the proximal long arm of chromosome 19.  DM is an autosomal dominant condition; this means that only one copy of the gene with a genetic alteration is necessary for DM to occur. The genetic alteration found in the myotonin protein kinase is a repeating sequence of three specific nucleotides (these are the ‘building blocks’ which make up DNA). Normally in gene 19 the sequence of cytosine-thymidine-guanine (CTG) repeats itself from 5-37 times in a row, however in an altered DM gene this CTG sequence repeats 50+ times and in some cases it can exceed 2000.  The number of repeats effects when the age of onset occurs and the severity of DM.  The table below shows how the CTG repeat length/numbers effects the clinical symptoms
Table 1: Correlation of CTG repeat numbers with clinical symptoms
CTG repeat lengths

DM disease Class

Clinical Symptoms

50-100 Symptomatic

Minimally affected Cataracts, mild muscle symptoms
100-1000 Classical adult onset Progressive muscle weakness
Wastage and stiffness
Heart problems
Digestive problems
Diabetes
Increased sleeping (hypersomnia)
Mental impairment
premature balding
Reduced fertility
Breathing problems
Testicular wastage
1000 – 4000 Congenitally affected Breathing difficulties
Initial hypotonia
Feeding Difficulties
Progression in skills possible
until age 5
delays in Milestones
Speech Problems
Delays in Toilet Training
Mental Retardation
 

The numbers of CTG repeats are stable from generation to generation when they are in the normal 5-30 repeats.  The number of CTG repeats may change in number from generation to generation when they are in the range of 50+.  The number of repeats will rarely decrease in number from parent to child.

Figure 1 shows the difference between the normal and the altered CTG repeats

Some authorities maintain that the correlation between the number of repeats and the severity of the illness is not absolute. A key factor they maintain is the age when the first symptoms appear. The earlier the symptoms appear the more likely that the disease may have a more severe manifestation.

The affected mother has a 50% chance of transmitting the mutation to each child. The underlying Myotonic Dystrophy that the mother has is inherited as a “autosomal dominant trait” However, there is some thought that the mother has a “maternal factor” that passes through the placenta and thus is the cause of fetal muscle maturation arrest. (Farkas-Bargeton). There have a a very few documented cases of paternal (father’s) transmission of the congenital form. Click here for more info.

Congenital Myotonic Dystrophy is related and linked very strongly to Myotonic Dystrophy. In virtually all cases the mother must be affected and have Myotonic Dystrophy. Myotonic Dystrophy is a genetic disease that is more progressive between generations. This is called anticipation;  that means that each son or daughter that is affected  may have the disease slightly worse. The CMD condition is potentially the worst outcome of this disease.

Myotonic Dystrophy has the anticipation or amplification factor. Each succeeding generation may have the disease slightly worse. The number of repeats of the CTG sequence gets longer. The onset of Myotonic Dystrophy gets earlier as a general rule as the number of repeats increases. In this family of disorders the number of repeats tend to increase with succeeding generations. Again, this is known as “genetic anticipation”

There also has been a report from England that there can be regression (shrinkage) as the MD allele is passed on to successive generations; this is mostly seen with paternal (through the father which is rare)  transmission. The is also some reports of regression to a repeat number within the normal range

Myotonic and CMD belong to a growing family of disorders where the genetic mutation involves unstable Trinucleotide repeats (C_G) These letters correspond to amino acids which form the basis of DNA. More information on Triplet Repeat Disorders or Triplet Repeat Information. A few related disorders:

Fragile X Syndrome CGG
Myotonic Dystrophy CTG
Huntington Disease CAG
Kennedy’s Disease CAG
Spinocerebellar Atrophy-I CAG
Machado-Joseph Disease CAG

CTG Repeat Numbers

5 repeat and 16-30 repeat alleles have been shown to share the same linkage disequalibrium as DM. It is proposed that the 5 repeat allele expands to alleles in the 16-30 repeat range which then form a pool for recurrent DM mutations. In the absence of a high new mutation rate, this theory explains why myotonic dystrophy is maintained in the population and not lost via the congenital form.

 
Diagram of How the disease may affect transcription

 

 Click below for a great booklet on Whether to test for Myotonic Dystrophy

myotonic dystrophy an informed choice of testing