Amiocentesis and Muscular Diseases?
Hi, I have a 4 year old who has very tight heel cords. We were referred to a neurologist and shes running a blood enzyme test to check for muscular dystrophy, and other muscular disorders. I forgot to tell her, but I had amniocentesis at 20 ish weeks. Wouldnt muscular dystrophy have shown up on that? Please only answer if you know for sure, Im worried sick.
DMD is genetic, it's caused by a big chunk of the dystrophin gene being deleted- dystrophin is involved in holding the structure of the muscle cells together and if it's too short it won't work too well at doing that.
they should have been able to see that with amnio, it's an obvious thing if they look for it. maybe they just didn't screen for it? (+ info
does my mom have muscular diseases?
her eye twitches a lot and her legs hurt a lot and she gets really tired a lot and im scared for her. but every time i try to get her to go to the doctor she says that she'll go but then she doesnt even make the oppointment. what should i do?
She sounds like she is suffering from stress .She needs to **wear support hose** .and if heavy, to lose weight .Tell her to see a doctor (make the appointment for her .) and if she won't then get those hose on to stop blood clots from forming . (+ info
what diseases are found in the muscular system?
This is a respiratory category so I assume you are asking about diseases that affect respiratory muscles.
Duchenne Muscular Dystrophy (DMD) (Also known as Pseudohypertrophic)
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Diseases of the Muscular System?
So far I have done: ALS,Muscular Dystrophy, and Spinal Muscular Atrophy. I need 2 more muscular diseases or disorders. Anything? I waz thinking Polio and Tendionitis... would those work?
Oopz.... btw this is for a science project XD
tendonitis (+ info
Mt friend is sick with a muscle disease. What are some names of muscle diseases that she could have?
My most dear darling best friend has a horrible muscle disease that started in the second grade. Her shoulder muscle completely deteriorated. She is always in pain because her muscles are deteriorating slowly. Also her spine is permanently curved. She does not have scoliosis or muscular dystrophy. Can someone please give me some names of what she might have so I can look it up??
Greetings. When I first answered your question, we were accidentally signed in under my husband's profile- and I need to be under my own to work on an answer (he doesn't like to sign in much). " Abelincolnbuff " may be a strange name for a lady (esp. with the pic of Abe), but I admire our 16th pres. very much!
I wanted to change some of the info a little bit, when I remembered the AGE of your friend(sorry) and some other information you gave. I will copy/paste most of the previous answer, but with pertinent changes:
There are many muscle diseases that can affect young people besides muscular dystrophy. Even if your friend's condition is not inflammatory, the news-letter for the "inflammatory myopathies" may cover most of them, Including: JUVENILE dermatomyositis "D.M."(I have D.M. + Lupus), JUVENILE polymyositis "P.M.", inclusion body myositis, A.L.S. and several muscle diseases that I cannot remember the names of. There is a monthly news-letter that only costs about $35 per year or less, and I used to get it. Right now, we are dealing with my husband's cancer, so I do not subscribe.
Your friend really needs support- and I pray she has it! Many of these muscle diseases can be deadly, but most people- even many DOCTORS- do not understand them at times because they can be rare. The several doctors I saw at first thought it was "stress," and sent me home, but I knew I'd die if nothing was done! So I prayed and looked up the symptoms myself. When I found a "perfect match," I asked my doc for the first blood-work. BINGO! The muscle biopsy showed D.M. damage, as did all the other tests!! The Rheumatologist said he once had a nurse who died of it within 6 years because she refused to take the medication. I found out later why she refused...
Treatment for the "inflammatory" type of muscle disorders often includes a huge amount of PREDNISONE(a type of steroid), causing"CUSHING'S SYNDROME":unavoidable Weight gain (a few are lucky), a large "hump" on the back (distribution of weight from cushing's), mood changes, bone-loss, bone deformity, possible diabetes, possible cataracts and more. Every case is different. Other treatments involve chemotherapy, plasmapheresis(when lupus is involved), IVIg, and antibiotic immune-modulating therapies- among other things,...Treatments are improving every day, I've heard.
One reason your friend needs support is that many people (+ doctors) can get life-threatening muscle disease confused with Fibromyalgia or Chronic Fatigue (those conditions being vague and usually not taken seriously by doctors because they are very hard to prove). Conditions like mine(Dermatomyositis + Lupus) can be seen in biopsy, EMGs. and other blood-work. They can KILL people by destroying the muscles used to swallow, breathe, and even the heart- which is a muscle. Mostly, Juvenile D.M. attacks the upper arms/shoulders and upper legs, but as everyone is different- I also had much trouble swallowing (my first symptom), but it spared my ability to speak and even SING! I was a singer most of my life- so I thank God that He somehow protected my singing and speaking ability!
You can be a great friend to her by understanding- and believing- the condition and it's side-effects without judgment. My tragedy was that my estranged father(because of his new wife) did not look into it seriously and I doubt that he even knew the proper name. He never understood that it was scientifically proven, life-threatening, and totally life-changing for my family. So he walked away from it all thinking I was "lying" or "making much out of nothing"- without ever knowing about the years of chemo, plasmapheresis, steroids, Cushing's, and unspeakable suffering...We used to be close. If he had truly cared, looked it up or asked me myself- I would have shown him all the proof he needed.
I'd like to help someone else through what I went through. You are to be commended for trying to find the truth and help your friend!
Your friend or her family may be more than happy to tell you the name of the illness she has. Have you considered asking? (+ info
What disease are related to the skeletal or muscular system of the body?
Use an internet source to provide some information about a disease related to the skeletal or muscular system of the body.
Answer the following questions:
1. What is the disease and what effects does it have on a patient.
2. What is the prognosis?
3. What can be done to cure or treat symptoms of the disease? (example: medications, therapy, amputation--yikes!)
Check out DMD
1. Problem: defective gene resulting in abnormality of the muscle cell membrane scaffolding protein dystrophin. Result progressive muscle wasting and weakness...to the point of wheel chair confinement and eventually to the point where your respiratory muscles aren't strong enough to breath
2. There's no cure. Death by their 20's
3. No meds. rehab therapy, light exercise to promote strength and stamina. Will need a wheel chair. May need surgeries to prevent permanent contraction of the tendons (contractures). May need ventilatory support
http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm (+ info
what are examples of muscular diseases?
ALS, also known as Lou Gehrigs Disease, Muscular Dystrophy, Myasthenia Gravis,to name a few. (+ info
What is an example of a disease of the muscular system?
I'm supposed to do a paper for bio about a disease of the muscular system, but i don't really know of any. My friend said i could do like a torn ligament or something, but that's not gonna take the five pages that i'm required to do. Anyone have any other ideas? Thanks in advance!!!
It is a group of genetic diseases that cause the muscle fibers to become easily damaged. There are over one dozen different types, but the most common general symptoms are muscle weakness, lack of coordination and loss of mobility. The most severe type, Duchenne's muscular dystrophy, can cause mental retardation and primarily affects young boys. MD is diagnosed through genetic tests, muscle biopsies, blood tests that measure for high levels of creatine kinase and ultrasounds. There is no cure for MD but it can be treated to reduce the severity with physical therapy, medication, surgery and special braces.
There seems to be plenty of information on this. (+ info
How many diseases, disorders, illnesses, deformities, etc. are there in the world?
Related to the human body, all of the systems, and including the rare diseases.
By systems I mean:
Skin, hair, nails
include psychotic disorders as well
And include auto-immune, bacterial, and viral disorders too.
Include genetics and cancer as one disease.
Also include inflammatory diseases too. I MEAN EVERYTHING
That's too many to count. It's like counting your own hair. Plus, your friend's hair. Ok, that's a joke. The rare diseases? Only superspecialist will keep that in mind. Not even a specialist can tell you this, let alone bystanders. (+ info
My brother-in-law is affected by muscular dystrophy disease. Is the medicine is find for this disease?
Muscular Distrophy disease is the one of the medicineless disease in the world. The disease affected persons cannot walk,stand properly like formals.
What are you asking? I don't understand what you mean by "is the medicine is find for this disease." I worked for years with MD patients when I worked in the hospital. I wish I knew what you are asking. I bet I'd have some answers for you. Also, look under Muscular Dystrophy. Just type it in the address bar. You will get a plethora of information. (+ info