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I dont think i have the right diagnosis

I first started noticing in about 5th grade while i was playing basketball that i would go to run and fall. then the symptoms disappeared..until about 7th or 8th grade and i went to the doctors and got an EMG they diagnosed me with Thomsen's Disease. I dont think that the diagnosis is correct because i NEVER had troubles swallowing. I have had problems with my legs, arms, hands, and neck. They all kind of "lock up" from one time to another. A friend of mine says i dont stretch enough and i constantly try to tell him otherwise, because when i played basketball we stretched for about 30mins everyday. i have sharp pains that shoot through my shins, but whether that is connected or not..i dont know. Does anyone have any idea of whether this sounds like myotonia Congeneta? or could it be some kind of dystrophy or anything else?

Type of Myotonia: Ltimblin1,2

Re: I dont think i have the right diagnosis

Lindsey, it seems that most with Becker's (the recessive form of MC) don't have the trouble with swallowing, breathing and vision that those of us with Thomsen's tend to have. Instead it's more of an overall stiffness of the muscles and a freezing up sensation when you are startled or frightened.

If you had myotonic dystrophy you would probably begin to see some muscle atrophy as well as other signs like cataracts, heart problems, GI problems, etc. It is often initially diagnosed by opthamologists because of the unique type of cataract that is seen at a fairly young age.

With DNA testing it's pretty easy to sort it all out now. Does anyone else in your family have symptoms of MC? If not, or if only siblings are affected, then it's very likely you do have the recessive form. The other possibility would be something like hyperkalemic periodic paralysis or paramyotonia congenita. You can read more about them at www.hkpp.org.

To get testing in the US you can look for the nearest MDA clinic through their website at www.mdausa.org.

Jan

Re: Re: I dont think i have the right diagnosis

They told me that I had Thomsen's. No one else in my family has ever been tested. If anyone in my family would have it, it would be my father. If i'm correct then, my parents had a 50% chance with each of us children since it would then have to be autosomal Dominant. My doctor told me that the disease should not progress, but that every generation down the disease will become more severe. I have most of my problems in my legs. It's like after i run, i stop and rest..but then when i go to move or walk or anything my legs lock up and i cant move, it is the same though without physical activity. In school when i go to get up from my desk often times after i stand i have to pause before i can walk. It's the same with gripping anything.

Type of Myotonia: ltimblin1,2

Re: I dont think i have the right diagnosis

Your doctor is probably a bit confused. There is no indication at all that the symptoms are worse in successive generations. That tends to be true with myotonic MD, but not MC. Also many doctors, especially the older ones, don't differentiate between the recessive and dominant forms and call all MC Thomsen's.

To determine if you do have Thomsen's they can test both your parents and see if one shows up with myotonic discharges. That won't work with the recessive form. The myotonia doesn't show up in the parents since they have one normal gene to compensate.

Your symptoms certainly match MC. A DNA test will confirm for sure which type you have which is nice to know when you're planning a family later. If you have the Becker's MC (recessive)then your children would have almost no chance of inheriting it (unless you married someone who carried a recessive gene). The two labs doing testing in the US are Athena in New York and Fullerton Genetics in North Carolina.

If you're interested in trying a medication for your stiffness the most effective would probably be Mexitil. If you do a search on the forum you'll find lots of information including experiences of students like yourself who want to play sports through school.

Jan

Re: I dont think i have the right diagnosis

Hi Lindsey - I am 57, and have Becker's type Myotonia Congenita. The physical symptoms you describe could have been written by me, because I also seize up either after no physical activity, or after strenuous activity. The stiffness and clumsy feelings I get after a physical workout are much more intense and prolonged, but the symptoms when moving "cold", or when startled or frightened are much more dangerous to me, because then I have no hope of catching myself. Have you read the stories a few of us posted on the main web site? You'll feel right at home! By the way, even though I have Becker's, I do have problems with swallowing, occasionally with my eyes and eyelids, and I have always gotten weird palpitations (no cardiac problems). I think Jan is right when she notes that there is so much that really isn't known about MC, and most doctors rely on information that hasn't been updated or re-assessed in years. That's one of the reasons we have the letter on the website, so people can print it out and bring it to their doctors, for a more accurate and modern viewpoint. Lois

Re: I dont think i have the right diagnosis

Oops - and by the way, I forgot to mention that I was diagnosed as having Thomsen's by the neurologist - not based on anything at all except for the EMG and his understanding that it was the more common, and therefore most likely type. There was no doubt in his mind, and he did not recommend any further testing, because it was a given. I wanted to know because I wanted to be able to better explain it to my son and my family, and know if passing it on would be likely or unlikely. I asked another neurologist, and he agreed, so I had the DNA test. I am finding we really do need to be proactive self-advocates, because the knowledge base, and understanding of the differences and importance of them, is quite sparse. lois