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Mr. DOLLIVER. There are other diseases, of course, which are included

Dr. BAILEY. Yes.
Mr. DOLLIVER. Thank you, sir.

The CHAIRMAN. Doctor, you may proceed, if there are not any further questions.

Dr. TRAEGER. I now call on Dr. Milhorat to tell us about muscular dystrophy.



Dr. MILHORAT. Mr. Chairman, may I preface my remarks with the statement that I was very happy to hear you refer to the Tall Cedars of Lebanon and the noble efforts they are making for patients with muscular dystrophy.

It is true with them, as I believe with members of this committee, that to see is to know, to know is to be convinced; and, in the case of muscular dystrophy, to be convinced is to act on behalf of the patients.

I mention this because 3 years ago the Tall Cedars were in the same position insofar as knowledge of muscular dystrophy is concerned as the members of this committee. They sought a national objective for their philanthropy. They looked at various human diseases. They saw patients with muscular dystrophy. Their choice was decisive.

Now, what is muscular dystrophy? It is a disease in which the involuntary muscles waste and are replaced by fat and connective tissue. There are no periods of advancement. There is no improvement. The course is relentless. It is progressive until finally total infirmity has been reached and the patient succumbs to the disease.

Who are the victims of this disease? Two-thirds of the victims are children in whom the disease has its onset between the ages of 2 and 5. At first the grave prognosis is not recognized. It is thought perhaps the stumbling and awkwardness is merely due to something minor, like flat feet; but it is not long before it is recognized that this is a serious disease. By the time the child is 10 years old he is usually confined to a wheelchair and in most instances succumbs to the disease by the time maturity would have been reached. It is a serious disease for which there is no treatment.

Another serious aspect is the fact that these patients develop contractures. Crippling and deforming shortening of the muscle tendon units occurs, so that the joints are pulled and held out of the normal positions.

Third, it is an hereditary disease. In about 35 percent of the cases one can obtain a history of some other member of the family affected with this disease.

So one can well imagine the apprehension on the part of the parent, who already has one child with the disease and whose other children are approaching the age in which the first child first showed symptoms of muscular dystrophy.

I think there are few crosses heavier to bear than that of the parent of a child with muscular dystrophy.

If we tried to manage all of these patients with physical therapy and tried to put them into institutions or give them what help was available, the cost would be tremendous. However, I believe that the cost of research will be relatively little. Already we have men trained in basic sciences not engaged in the problem of muscular dystrophy, Already we have a great fund of knowledge of the basic chemical processes of the muscle. These men should be given support so that they may work in the field of muscular dystrophy; and information now available, insofar as normal muscle is concerned, must be applied to the problem of this dread disease.

Perhaps I could go further with questions, rather than with a formal statement.

The CHAIRMAN. Mr. Dolliver.

Mr. DOLLIVER. From what you have said, do I understand that this is a disease of the muscular tissue rather than the nerve tissue ?

Dr. MULHORAT. That is right. It is a disease of the muscle in which in few instances the heart participates, but there is no involvement of the nervous system. However, the diagnosis of this disease requires a good knowledge of diseases in which there is muscular wasting subsequent to the disease of the nervous system.

Mr. DOLLIVER. You have indicated by your remarks, then, that this is a sort of a result of a nerve destruction or wasting away?

Dr. MILHORAT. In muscular dystrophy itself, sir, there are many types of muscular atrophy resulting from disease of the nerve, but muscular dystrophy is a disease of the muscle itself. There is no evidence of disease of the nervous system. However, when we say the disease is primarily muscular, we do not mean that the primary metabolic cause is located there. It may be in the muscle or it might be in the liver.

Mr. DOLLIVER. Research has not disclosed the cause of this? Dr. MILHORAT. That is true. We know nothing about the mechanism of that.

Mr. DOLLIVER. Have there been any hopeful signs that such a specific cause could be isolated ?

Dr. MILHORAT. Well, there are several hopeful signs. First, is the general attitude toward hereditary disease. "It was formerly thought that if a disease was hereditary we could do very little about treating it. We know, however, that the disease gene or the factors in the chromosomes which give us a particular factor we inherit control a specific physical reaction of the enzyme and that in hereditary disease the enzymatic reaction controlled by the disease gene is disturbed. There is a great deal of experimental evidence to prove that. In fact, hereditary disease may be produced in the lower animals by means of radiation and treatment by mustard gas, though all we know is the site and type of the enzymatic condition. An outstanding example of that is diabetes, of which we know a great deal. Secondly, the muscle has great capacity for regeneration. Muscular dystrophy may be produced by many different experimental means and when you remove these means or adequately treat the animal, structural and functional restoration may be caused so that, if we had an effective treatment for dystrophy, it is not too much to hope that a great deal of recovery would take place in the muscles already damaged. We have seen instances where a great deal of damage has occurred in the muscle cell and the muscle cell will still be capable of regeneration or improvement.

Mr. DOLLIVER. Is it the belief of the experts in this field generally that some enzyme or some internal secretion is lacking to make the muscle reproduce itself?

Dr. MULHORAT. That is true; yes, sir.
Mr. DOLLIVER. But, they have not isolated that as yet?

Dr. MILHORAT. No. Several paths of research are being followed and some studies with a specific oxidation have been carried on and the results so far are promising, but they cannot be translated into therapeutic terms.

Mr. DOLLIVER. What in general is the incidence of this disease ?

Dr. MILHORAT. It is difficult to say. I frankly do not know, although I have been a student of the problem for many years. I believe, however, that the estimate of 100,000 to 200,000 patients made by certain organizations is a reasonable one. Often the disease is not diagnosed and, secondly, in many instances where a diagnosis is made the patient in his dispair and feeling of hopelessness seeks the seclusion of his home and then is lost to the medical profession. We can say, however, that wherever there is a physician or a clinic that displays interest in the disease, many patients appear.

Mr. DOLLIVER. Now, I think I understood you to say that this disease was hereditary? Is that true in all cases ?

Dr. MILHORAT. Well, in about 35 percent of the cases we have definite evidence of hereditary transmission and in the other 65 percent we do not know definitively, but there is reason to suppose that in many of these the disease is transmitted and is transmissible, but because of certain circumstances the males or females were spared this disease over a period of a generation. It is very difficult for any of us to look into the history of our forbears and tell definitely what our great-great-grandfather had. We just do not know in many instances.

Mr. DOLLIVER. The thing I was leading up to was this: Did I understand you to say that symptoms similar to this disease can be produced in the lower animals by means of some kind of injection or something of that kind ?

Dr. MILHORAT. That is true, sir. One is by the deprivation of a vitamin that is necessary in all species of animals, namely, vitamin E, and by the overdosage of a hormone normally appearing in the body, namely, cortisone, and by the administration of a toxic substance not normally occurring in the body. There might be others to enter the picture, but they are quite indistinguishable as they all look alike, but in all of them there is a great capacity for recovery.

Mr. DOLLIVER. If you stopped administering these three drugs you speak of, the animal will regain its muscles which have deteriorated ?

Dr. MILHORAT. I think one can rightfully say that the picture for the patient with muscular dystrophy at this moment is gloomy or that the promise is not bright. Of course, it is the feeling of students of the problem that if a specific treatment were available recovery would be considerable.

Mr. DOLLIVER. Is it your feeling that the great need here is for general and specific research in this field ?

Dr. MILHORAT. General and specific research, mainly at fundamental basic levels and also at the clinical level.

Mr. DOLLIVER. That is all, Mr. Chairman.

The CHAIRMAN. Are there any other questions, gentlemen ?

Mr. HESELTON. Doctor, it is my understanding that it was not until around 1950 that the association performed a great deal of research in this field?

Dr. MILHORAT. That is true, Mr. Heselton; very little had been done, and up to that time there were only a few projects in existence.

Mr. HESELTON. But the association is active now and as I understand it has been successful in raising very substantial amounts of money?

Dr. MILHORAT. In 1950 from the tears and worries of parents of patients there arose the Muscular Dystrophy Associations of America, and their history I believe is phenomenal. They have given to it the energy and the emotion of parents who are vitally interested in this subject.

Mr. HESELTON. Is diet a factor?

Dr. MILHORAT. That is a very pertinent question and a very significant one. Although I cannot answer it, we do know, however, that the disease may be produced experimentally by changes in diet. I have spoken about vitamin E deficiency, and muscular dystrophy occurs with great frequency among food-deprived animals. Many rations contain less amounts of this substance than others. Some contain less amounts of cod-liver oil, but muscular dystrophy may be produced in animals by large amounts of cod-liver oil, although the content of vitamin E in the body would be otherwise sufficient to maintain the animal in good health.

Mr. HESELTON. What about the personnel—the people who are experts in this field ? Is there a sufficient number?

Dr. MILHORAT. There are not many physicians who are trained in the field of muscular dystrophy but there are a great many people engaged in basic research in other lines. For example, this will illustrate my point: One type of dystrophy begins at about age 2 and the patient succumbs at about the age of puberty, and there hardly ever is an involvement of the face.

The contrast here is between the extreme wasting in practically all the muscles of the body and yet there is no effect to the face. In other forms that begin about puberty and progress somewhat more slowly, however, the face is involved very early. This is a problem that interested me for many years. A few weeks ago, in a department of zoology, I found a professor who is studying the effect of certain hormones on various groups of muscles in animals. In rats deprived of the pituitary gland, he found that certain groups of muscles always responded in the same way but other groups of muscles always responded in the opposite way. Here is a promise of an answer to this important problem as to why certain muscle groups are involved, and here is the work being done in a department of zoology by a man who never saw a patient with muscular dystrophy. So, I feel there is a great deal of work that can be done in departments by people who do not know just what the problem is.

Mr. HESELTON. What about the medical schools? Are they giving attention to this particular disease?

Dr. MILHORAT. Relatively little, Mr. Heselton. Naturally at centers like Cornell and here at Georgetown and the Neurological Institute where there are people interested in disease, the patients come

there for study and possible treatment and the students see these patients, but otherwise the students have very little contact with patients with the disease and as a consequence they are unable to make the diagnosis.

Mr. HESELTON. That is all.

Mr. HELLER. Did I understand you to say, Doctor, that there is presently no known cure for this disease!

Dr. MILHORAT. That is correct.
Mr. HELLER. I wanted the record to indicate that.

Dr. MILHORAT. I am very, very sorry to say that that is absolutely true.

Mr. HELLER. One more point that I want in the record and that is this: Would you say, then, or have you testified, that this disease is entirely hereditary? I know you mentioned the figure of 35 percent and then there was some qualified statement made.

Dr. MILHORAT. I would say that in 35 percent of the instances we have definitive evidence of heredity, and of the other 65 percent some presumptive evidence and in other cases there is no evidence whatever of heredity. I might say we have seen instances of muscular dystrophy having its onset in individuals 40 and 50 years of age, but never familial, but progressive, and maybe exceeding progressive, killing the man or the woman within a period of 2 or 3 years, and heredity is not involved.

The CHAIRMAN. Are there any other questions, gentlemen?

Mr. CARLYLE. Doctor, is it agreed by those who have made a careful study of this subject that there is no possible connection between the brain and the spinal cord and the muscular disorders that you speak of ?

Dr. MILHORAT. Well, I would say that there is no histological evidence-no structural evidence—that muscular dystrophy arises subsequent to disease of the spinal cord or any other part of the nervous system.

I think one thing that probably should be brought to the attention of the committee—and I am sure the committee is familiar with thisand that is that nature while complex is also very economical and employs certain different types of reactions to attain a certain end. So, we see in the muscle many types of chemical processes observed elsewhere, including the nervous system. So, it follows as night follows day, that if we knew about muscular dystrophy or other diseases of the muscle and the specific chemical processes involved, we would also know a good deal more about other tissue and their disease because there is an economy in nature, and in the muscle we see practically all of the reactions that are seen in all tissue.

The CHAIRMAN. Are there any further questions?

Doctor, I would like you to feel free to add to your testimony whatever you feel would be helpful in presenting the whole subject. I realize you have cooperated to conserve the time of the committee and it might be appropriate if you would include the work that is being done—the extent of it—by the Tall Cedars of Lebanon. The reason I mention that is that it may be a way that we could open up the subject for other organizations to take interest in some particular disease, the same as they are taking in that disease. So, from that standpoint, it might be helpful to have a record made of it in the record of these hearings.

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