Hello everybody!!!

My name is Luis and I am from Spain. I´m delighted because I found this forum yesterday. It´s great to find others with the same rare disease and share stories, experiences, tips and all kind of info all together.

I´m 36 and I was diagnosed MC 6-7 years ago although I still don´t know the correct type (There was EMG (positive), biopsy (useless because bad sample taken ) and a DNA analysis (it only established it was not type DM1 (Steiner)).

Because I changed my job and the place where I used to live, I stopped the studies around my diagnosis until now...neurologists think my 3 years old son and I probably have Thomsen´s. We are waiting for DNA results to confirm it.

Yes, my little son shows more severe symptoms than me and both, my wife and I, became worried so we visited the Neurologist again in search of diagnosis for our child.

I started feeling symptoms older (8-9) and apparently milder than my son because nobody was able to notice my disease at school while our child´s teachers have pointed the problems that our son has(sometimes) to open his eyes after sneezing, his natural stiffness and a strange lack of strength and ability in his fingers (he is in troubles when he need to open a yogurt cap using the gripper with his fingers or holding the pencil with skill and strength enough to write). The teachers also think he could have difficulties speaking because his words and sentences are not very clear, but the neurologists and myself think that it is more a matter of time and maturation than a physical problem (although cold and stress could obviously affect his tonge or jaw). He also looks like an herculean little man so he draws attention in swimmingpol and the beach at summer.

Although we are worried, I´m also optimistic because we have more information now than when I noticed something was not working properly with my muscles years ago. I will try to help my son to endure this disease as much as possible. I think knowledge is very important because thanks to it we can plan better our lifes...I knew after trial and error that cold was not good for me (sometimes), that stressful situations could paralyze me or hurt me more than the others, lack of sleep or food,...all these things are part of our lifes and the sooner we learn them the better we can adapt our style of life to them.

This is why I think the new communication technologies and places like this forum are extremely important for all of us in order to know more and more about our strange and rare condition.

Thank you very much to all of you and specially to Jan.

Best and warmest regards,

Luis

Type of Myotonia: Probably Thomsen

Country: Spain

Welcome, Luis! I hope you get your results quickly. It is always a relief to have documentation and know exactly what is causing the symptoms. I wish doctors would quit doing muscle biopsies. They are almost always inconclusive and not necessary since DNA testing has become widely available.

Thomsen's can show up at different ages. In my family the most common age was around 8-10, but one of my daughters had some muscle hypertrophy at a young age. Children tend to push against the stiffness to try to force their arms and legs to move, and that causes some muscle damage. When the body repairs the damage, the muscle size is increased to try to deal with the additional stress. It's basically the same thing you see in bodybuilders who rip the muscles on purpose to increase muscle mass after it heals.

If you haven't read the Letter for School Staff on the main page (click on Return to Website above) that might be helpful for your son's teachers. I am going to try to get a Spanish translation because we get many visitors from Spanish-speaking countries.

Keep us posted on your results -

Jan

Type of Myotonia: Thomsen's

Country: US

Luis"I had the same problem with speech because of My tonge not responding from cold or to much potassium.

Type of Myotonia: Beckers Myotonia

Country: USA

Hello!!

I'm from Spain and I have been diagnosed recently Myotonia of Thomsen

The EMG was positive and DNA analysis confirmed that it had a homozygous mutation of Gly233Val.

regards

Ana, glad you got a definite diagnosis! So you would have the recessive form, Becker's MC. That's always good news for people who have children or who want to have children because the chances of them having symptoms is almost zero, even if they are a carrier of the mutation.

Has your doctor talked to you about medications for myotonia? I don't believe mexiletine is available in Spain. Some of the others used to treat MC would be acetazolamide (Diamox), phenytoin (Dilantin), lamotrigene, flecainide, carbamazepine (my least favorite), and quinine sulfate. Diamox and quinine seem to have the fewest side effects, especially for younger people.

Jan

Type of Myotonia: Thomsen's

Country: US

Hello! No, I have the dominant form, Thomsen MC. My doctor has not put me treatment yet. My doctor has considered more important, that I first saw the medical geneticist. The geneticist will explain me the chances of transmitting the disease to my children and the problems they may have.

The neurologist told me that after visiting the geneticist visit again to see the ability to get treatment.

I do not speak good English, I hope you can understand me. A greeting!

Ana,

Do you have two copies of the same mutation? I can't access my genetic database right now, but if G233V is associated with dominant MC, then both your parents would also have symptoms. (Heterozygous is one, homozygous is two.) Is that the case? I haven't ever heard from anyone who had two dominant mutations, but a few have had one dominant and one recessive. That's pretty rare, too.

Jan

Type of Myotonia: Thomsen's

Country: US

Hi Jan,

In the results of my genetic test is written: it has been identified by sequencing the presence of pathogenic homozygous mutation c.698g>T in the gene CLCN1. This change is a "missense" mutation leading to the replacement of glycine by vanila at position 233: p.Gly233Val (p.G233V)

I do not really understand what it means, but my parents did not have any symptom, however, I have symptoms since childhood.

Ana, did you have an EMG showing myotonic discharges? Also, do you know exactly what type of DNA testing was ordered? In the US the gene is usually specified (like CLCN1), but perhaps your lab did a profile looking at several genes.

I don't see that genetic mutation listed in the database for myotonia congenita. However it is a variant associated with Limb Girdle Muscular Dystrophy Type 2A which is on a different gene (CAPN3).

Here are a few of references about it:

LGMD2A Variant Listing

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A

Coalition to Cure Calpain 3

The symptoms could be quite similar earlier in life. I don't know if the lab made a mistake listing the gene or the variant, or if it is a variant for myotonia congenita that hasn't been published yet (very unlikely that it would have exactly the same notation as the LGMD2A variant).

I would suggest contacting the lab or having your geneticist contact them to review the results and make sure they were reported correctly. It's not the first time I have seen misreported test results, so it's worth confirming because they are two entirely different conditions.

If it does turn out to be Limb Girdle MD, there is a doctor in San Sebastian who specializes in LGMD:

Lorea Blazquez
Hospital Donostia
lblazquez@chdo.osakidetza.net

Please let me know what you find out -

Jan

Type of Myotonia: Thomsen's

Country: US

Yes, I have myotonic discharges an EMG.
My DNA testing is, Myotonia congenita: CLCN1 gene sequencing.

I have sent you an email with the article.

thanks for the info

Type of Myotonia: Thomsen's