weird case of MD..will I inherit?

Silver83 · 06-29-2009, 07:22 AM

Hi There I'm a 26yo female. My father has muscular dystrophy, either Myotonic or Distal (I think). We can't really work out the strain because its a unique case. He is 57 and permanently in a motorised wheelchair, he hardly leaves the house but we have a van with a wheelchair lift, the toilet looks like its off Inspector Gadget etc. So his legs have been hit the worse, arms to a lesser extend, and he is starting to lose dexterity and strength in his neck. I'm trying to ascertain whether or not I will inherit the disease. His mother was both a sufferer and a carrier. She died from the disease at a youngish age (probably 50s?) She had three sons (no girls) and all 3 have the disease. My male cousin is the eldest son to dad's eldest brother, and has begun to display the symptoms. He is around late 30s in age. Can anyone help out in this scenario? Any info would be great, is there a test available to determine if you have the disease? Or do you have to wait till symptoms are present? I've only just started to research this and any ideas would be great. I live in NZ where we don't have the best research facilities. Thankyou

michigani · 07-03-2009, 01:46 PM

Silver,

First, best of luck to you. I hope you do not get the disease.

I am a 48 year old male with MD. My dad had it too. It sounds as though this may be a dominant strain of MD. That means if one of your parents has it you have a 50%-50% chance of getting it. Do a search on 'Dominant Inheritance' and 'Recessive Inheritance'. The pictures might help explain.

There are tests for SOME of the 70 plus types of Muscular Dystrophy, but you need to know which one you are testing for since the tests can be expensive; $600-$1000 in the United States.

An early test that your doctor could perform is a blood CK test. (Sometimes called CPK). This measures an enzyme in your blood. If the number is high (over 120) then you have early muscle damage and the enzyme is leaking into your blood stream. My CK count is always 400-500. Not too high but way above the normal 80-120 in healthy people. Severe MD can have a CK level of 20,000.

After symptoms start people usually get an EMG or a muscle biopsy.

I wish you the best.

Mark