Female age 15, died of pneumonia in 1998, weight 44 lbs. The parents tried their best to get medical attention. After this there is considerable controversy about the issues. More information in Legal Information

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SUBJ (6/99): EATING AND DIGESTIVE CONCERNS

My nephew (now 7 years-old) has had congenital myotonic muscular dystrophy (Congenital DM) since birth. One major health concern is his inability to eat normally because he seems to have difficulty swallowing, has chronic constipation and actively dislikes eating. This adds to his general tiredness, muscle weakness and learning problems. Do you have any suggestions for an eating regime that provide him a greater opportunity for a balanced diet given his problems?

REPLY from MDA: Ed Goldstein, M.D., MDA Clinic Director, Atlanta, GA

Congenital myotonic muscular dystrophy (Congenital MD, CMyD) is associated with marked weakness involving the face, mouth and throat which results in feeding problems in virtually all patients. For many patients with CMyD, feeding is so inefficient that a net loss of calories occurs while attempting to eat. Despite this reduced intake of food, poor gut motility and the patient's relative immobility frequently result in constipation. The more bloated the patient becomes, the less they want to eat. This is the cycle of feeding failure in patients with CMyD. These problems should be addressed with your nephew's physicians, and plans should be made to study his feeding patterns in detail. This will include a dietary log, which will permit calculation of how many calories your nephew is taking in. This log should be reviewed with a nutritionist, who can calculate any dietary shortfalls, in addition to making recommendations regarding intake of fiber and specific nutrients. Your nephew's ability to feed orally should be assessed through an OroPharyngeal Motility study (OPMS), typically conducted by a "feeding team" that includes a swallowing specialist (often an occupational or speech therapist). During this study, foods of different textures are mixed with contrast material, so that an 'x-ray movie" of the patient's swallowing mechanism can be made. This study permits assessment of what is wrong with the swallowing mechanism, and permits detection of complications such as aspiration (getting food particles down into the lungs). Aspiration can result in serious progressive lung problems if undetected. The OPMS will permit determination of what foods or food textures your nephew can swallow most efficiently and safely. If swallowing is too inefficient to address your nephew's caloric needs, or too unsafe based on chronic aspiration, recommendations are made regarding the use of tube feedings. Supplemental tube feedings may be accomplished over the short run via nasogastric tube, a temporary tube that runs through the nose and into the stomach. Although effective, these tubes can slip and result in choking, can irritate the nose and throat, and can result in sinus problems by blocking drainage pathways in the nose. As such, should supplemental tube feedings be a long-term issue as is frequently the case with CMMD, a gastrostomy tube (GT) is recommended. This is a feeding tube, which enters the stomach through the abdominal wall. Although a GT sounds scary, they are typically placed endoscopically by a gastroenterologist. This procedure requires only a brief hospitalization, and the GT is ready to use in several days. Advantages of the GT include no risk of choking if the tube slips, no irritation or infection in the nose or throat, a larger diameter permitting more varied foodstuffs, and an absence of interference with the mouth and throat. Therefore, this permits swallowing therapy to continue unimpeded while the your nephew receives needed nutrients through the GT. If feeding skills improve sufficiently to permit removal of the GT, it is simply pulled out and the tract seals itself leaving only a small scar. Many of our CMMD families are using a GT, and despite some initial apprehension, they really like them. The patient can be assured of adequate nutritional input while continuing to cultivate swallowing skills. Further, attempts at feeding, which used to take hours, can be undertaken more reasonably in a period of minutes. The whole day doesn't need to be spent fighting to get in sufficient calories. Once an appropriate feeding regimen is in place for your nephew, additional measures can be taken to assure adequate stool output. Your nephew's physician can recommend a nutritionist and/or gastroenterologist who can suggest stool softeners and laxatives to "keep your nephew going."

SUBJ (2/00): CONSTANT DIGESTIVE PROBLEMS

My sister (age 28 and under the care of a cardiologist) and I (age 33) have myotonic dystrophy (DM). We have serious abdominal cramping associated with diarrhea and severe constipation. My sister's 4-year-old son with congenital myotonic dystrophy (CMMD) also experiences severe constipation. We have talked to gastroenterologists, neurologists, and family doctors with no help. Is there medication available to mitigate the cramping associated with the diarrhea and/or constipation? We are taking Metamucil daily, which does not help. Kaopectate seems to relieve the cramping and diarrhea, but then it causes constipation. An herbal specialist recommended a product called "Smooth Move Tea" that has helped greatly for both my sister and her son. She prepares 8 oz. and takes 6 oz. herself and gives her son 2 oz. every other night. Is this product safe treatment, in your opinion? Any suggestions you might have regarding our constant digestive problems would be greatly appreciated.

REPLY from MDA: Tetsuo Ashizawa, M.D., Baylor College of Medicine, Houston, TX

Myotonic dystrophy affects the digestive tract. Esophageal motility is abnormal, with decreased pressure to push the foods down to the stomach. As a result, patients may have feeling of foods stuck in the chest after swallowing. The gall bladder often shows stones that necessitates surgical treatments. The colon (a lower part of intestine) may also show weakness with loss of motility with constipation. In severe cases, it may develop into a "megacolon," that is an enlargement and bulging of the colon with abdominal distension. The huge colon sometimes becomes so large that the diaphragm may be pushed up. These are all thought to be due to weakened smooth muscles in the digestive tract, although to find the exact cause we need more studies. "Myotonia of smooth muscles" has not been documented in patients with myotonic dystrophy. Diarrhea is not described in the literature well. However, I have seen patients with myotonic dystrophy with diarrhea and constipation like you and your sister and nephew. It may be related to the above problems, but it could be coincidental "spastic colon," also known as "functional bowel disease." However, the fact that only affected members in your family have these symptoms makes me think that this may be related to myotonic dystrophy. Treatments are conservative. For constipation, Metamucil, laxatives and enema are usually used, depending on the severity. I would avoid spicy foods to prevent abdominal cramps. Kaopectate is a reasonable solution for diarrhea, but as you mentioned, it may cause constipation. At any rate, the treatment is "symptomatic," and pretty much dependent on trial and error to find the right remedy. Present the above information to your gastroenteroloist and discuss the treatment right for you.

SUBJ (3/99): DM AND INTESTINAL OBSTRUCTIONS

I am 45 years-old and diagnosed with myotonic muscular dystrophy (DM). Recently, for the second time in four years, I was briefly hospitalized for an ileus (obstruction of the intestines). The first time I had a paralyzed bowel. This time, my abdomen was hard and distended, and the GI specialist said that my small intestines was dilated and twisted. The treatment was a nasal-gastrointestinal tube (called an NPO), an enema and a dose of citrate of magnesium. A CT scan, an X-ray of my abdomen and an ultrasound of the intestines and bowels revealed no abnormalities. Since this has occurred for a second time, I wonder if this is in some way related to the dystrophy. If so, are there any diet or life style changes that would reduce the chances of a reoccurrence?

REPLY from MDA: James A. Russell, D.O., MDA Clinic Director, Burlington, MA

Myotonic muscular dystrophy is one of the few muscle diseases that affects smooth muscle (such as the intestines) as well as skeletal muscle (muscles of the limbs and trunk) in a clinically significant fashion. Intestinal obstruction occurs with this disorder. You might diminish the chances of recurrence by drinking lots of fluids, eating adequate bulk and getting adequate exercise if possible. In addition, there are drugs such as propulsid that your physician might consider to improve the motility of your intestinal tract that could be beneficial as well.

SUBJ (05/98): PERIODIC HYPOKALEMIC AND HYPERKALEMIC PARALYSIS AND DM

I am a 32 year-old female diagnosed over two years ago with periodic hypokalemic and hyperkalemic paralysis and myotonic dystrophy. All the studies I have read about suggest that this disease lessons with age, however, my symptoms are worse now than they have ever been. What are the right things for me to eat that could help with my symptoms? Is there anything particular I could be doing to ease my symptoms? Since I have hypo and hyper, am I just between a rock and a hard place re potassium; or no potassium. Is exercise out of the question? My weight has increased since my diagnosis, and my worst symptoms occur with even moderate exercise. Are there any new treatments or therapies? Is there anything -- vitamins or medicines -- that would boost my energy level?

REPLY from MDA: Ed Goldstein, MD, MDA Clinic Director, Scottish Rite Children's Medical Center, Atlanta, GA

Regardless of which type of Periodic Paralysis (PP) you have, exercise followed by periods of rest, skipped meals, heavy meals rich in carbohydrates, cold or anxiety may make your symptoms get worse. Recently, several types of PP have been linked to defects in genes coding for specific ion channels. Similarly, several types of Myotonia Congenita and Paramyotonia Congenita have also been linked to ion channel defects. I suspect that your myotonic symptoms are the result of one of these conditions, rather than true myotonic muscular dystrophy. Ion channels are microscopic gates that let charged particles of things like sodium, potassium, chloride and calcium move into and out of your muscle cells. It's the movement of these ions which makes your muscles fire, and abnormal ion movement can result in overactive muscles (myotonia) or inactive muscles (attacks of periodic paralysis). An understanding of which type of ion channel is defective in patients can be helpful, particularly if the channel defect points to the use of a specific type of medication. It sounds like you've tried many of the basic lifestyle modifications which are typically recommended for PP. If this is not helpful, it may be worth trying medications like phenytoin, acetazolamide, mexiletine or tocainamide -- pending analysis of which type of ion channel defect you have. I would follow up with your local MDA clinic physician and ask about ion channel gene testing, which is performed by several research labs around the country. If these tests reveal a specific gene defect in your PP/myotonic disorder, medications may help your symptoms.

SUBJ (02/98): MYOTONIC DYSTROPHY AND SWALLOWING

I have myotonic muscular dystrophy with swallowing problems in addition to limbs. Several times daily I cough and bring up phlegm; it feels like it is always in my throat. I can't seem to wash this phlegm down. Is this part of the dystrophy? Any suggestions to handle this? And does this disease attack the involuntary muscles?

REPLY [1] from MDA: Robert E. McMichael, M.D., MDA Clinic Director, Ft. Worth

Myotonic dystrophy can affect the muscles of the throat and of the esophagus. This can be evaluated by a speech pathologist using a test called a modified barium swallow. This test consists of being fluoroscoped and videotaped swallowing different foods and liquids which have been marked with dabs of barium. Some potential solutions: 1. Thin the mucus by increased fluid intake. 2. Dilatation of the esophagus by a gastroentrologist. 3. Improved swallowing strategies based on the modified barium swallow. 4. Wash it down with water. 5. If clearing secretions from the chest is a problem, a home updraft machine may help.

REPLY [2] from MDA: Harold Marks, M.D., MDA Clinic Director, Wilmington, DE

Difficulty swallowing (dysphagia) is a frequent problem seen in persons with myotonic dystrophy. This is the most likely cause of your symptom. To determine what the specific malfunction causing your symptoms is, and how to treat it, I would suggest that you ask either your primary care physician or MDA Clinic Director for a swallowing evaluation. If the abnormality found is not treatable, I would suggest that if you smoke, you stop smoking and that you speak with your physicians regarding treatment of "phlegm production" with an antihistamine or other medication. Yes, myotonic dystrophy affects involuntary muscles such as smooth muscle (G.I. tract muscle, uterine muscle, etc.) and cardiac (heart) muscle

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