Tag Archives: symptoms

Biogen / Isis Partnership Readies Autism Drug For Human Clinical Trials

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A not well know secondary effect of a drug that Biogen and Isis are jointly developing  may reverse some or all the effects of a specific single gene  type of autism.  This drug will be entering Human Trials in 2014 if all goes well.   In August Biogen and Isis announced a collaboration on a drug that looks extremely promising to treat a form of muscular dystrophy, Myotonic Dystrophy. But it may also reverse the symptoms of autism that occurs in some not well known forms of myotonic dystrophy in children. This could be a sleeper drug that may help with this larger and more pervasive societal problem.

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Diagnosing Autism in Myotonic Dystrophy

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Many Children and some adults may have autistic like tendencies or autism. Several studies have indicated that ASD or autism like behaviors are present in there children. It could be your child only a few of these symptoms. IT could be they have quite a few of them. You will need a multidisciplinary team to do a formal assessment. However, as a parent you can get a sense of whether or not your child has some of these tendencies. This information is from Autism Speaks. Here is some additional information to consider:

Symptoms

What Are the Symptoms of Autism?

Autism spectrum disorders (ASD) are characterized by social-interaction difficulties, communication challenges and a tendency to engage in repetitive behaviors. However, symptoms and their severity vary widely across these three core areas. Taken together, they may result in relatively mild challenges for someone on the high functioning end of the autism spectrum. For others, symptoms may be more severe, as when repetitive behaviors and lack of spoken language interfere with everyday life.

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Myotonic Dystrophy Symptoms

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Myotonic Dystrophy

Myotonic Dystrophy Symptoms: People with Myotonic Dystrophy  may exhibit more or more of the following symptoms which many vary in how severe they are.  Some people will have many of the symptoms others much fewer. There is a generally relationship between the number of repeats of the CTG on Chromosome 19  and the severity of the disease. There are two symtomology paths with DM. One is the standard or adult onset path. The other is the Juvenile or congenital path. See the Congenital and Juvenile sections for this information for the standard Myotonic Dystrophy Type 1

Polyhydramnios Image

Polyhydraminos (Excess amniotic fluid during pregnancy)
This symptom is present during pregnancy. Usually amniotic fluid is swallowed by the baby and expelled through the umbilical cord. This does not occur and fluid builds up in the mother and can trigger premature birth. Careful monitoring by a doctor is necessary.
Constipation

Constipation
The bowel and gastrointestinal tract are affected by the disease. This causes constipation and excessive time on the toilet. PAtients also report DIARRHEA Many patinets has have abnormalities of the bladder system as well

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How do I know if I have Myotonic dystrophy

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How do I know if I or someone I know has Myotonic Dystrophy?

First you can scan the pages and see if your symptoms match those of people with Myotonic Dystrophy. Some of the symptoms are: A quick visual test is the grip test: Look at these pictures and then try to open and close your hand very rapidly. This are large visual files so may take a minute to open! Use your back button on the browser when done.
Polyhydraminos (Excess amniotic fluid during pregnancy)
Constipation
Cataracts
Ulcerative Colitis (abdominal pains)
Muscle Pains
Hair Loss
Depression
Apathy/Lack of Motivation
Difficulty in swallowing and chewing
Abnormal ECG
Weakness in muscles, Hand, Ankle, Shoulder
Inability to rapidly open and close hand
Hypersomnia (Excessive sleeping)

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Grip Test                    Characteristic Release

DNA Testing

If this still indicates that you may have myotonic Dystrophy you can visit your local Muscular Dystrophy Association if you live in the Untied States. They will arrange for a DNA blood test. The testing measures the number of CTG repeats on Chromosome 19 for DM1 and the number of Repeats on Chromosome 3 for DM2.  There is a foundation that may help with funding for testing. Contact us for more information.

There is also private companies that will do testing. You can send a blood sample to these testing labs and they will analyze the blood for you and send a report. Athena Diagnostics performs testing on both Type 1 and Type 2 Myotonic Dystrophy, DM1 and DM2. The fees for testing are between US$250 and US$350 per test.

Athena Diagnostics
Four Biotech Park
377 Plantation Street
Wochester, MA 01605
508/756-2886 Phone
508-753-5601 FAX
www.athenadisgnostics.com

Baylor College of Medicine
Medical Genetics Laboratories
One Baylor Plaza
Houston, TX 77030
713-798-3863

The normal number of repeats will be up to 5-38. Over this amount indicates that the disease may be present. The number of repeats can be in the thousands for the congenital form. You need to discuss this information with your doctor, the best would be with a neurologist at the Muscular dystrophy clinic in the USA or a Neurologist.

If the test show that an individuals has Dm then  make sure that all affected individuals carries an alert card. Emergency Medical personnel need to know if the person has DM. Click here to get an alert card. You can write our office for a plastic card to be carried in the wallet or purse.

What to bring to the Medical Office for 1st appointment

For your first appointment you might want to bring a medical history of any family members that might be affected. It will also help to print out the guidelines and Care recommendations from the Scottish Medical Society. Click here to access the Medical Guidelines and Care Recommendations.