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DNA result = Becker

Hi again!
Got my result, it was Becker.
Now i will dive into all information i can get, and receive as much knowledge about this so I can cooperate with my body in the best way.

I have a couple of questions for now
If the EMG test shows that you have mild charges of myotonia , does it means that you have the milder form? I remember the day when i did the test, in some ascpect I was a little "dissapointed" on my body because I had a good day with wery little symptoms, and i wanted it to show to be as accurate test as possible(I´t showed mild myotonia in all my limbs except in my cheeks)
I wonder if i had to do the test on a bad day would I have been diagnosed differenly then?
And the weakness that seem to be more attached to Becker (according to texts) How does it manifests in you other?

Kind regards
/M.T.I




Type of Myotonia: Becker

Country: Sweden

Re: DNA result = Becker

M.T.I:

Your DNA test results will be the same regardless of if you are having a good day or a bad day. That's the nice thing about DNA tests.

As far as the EMG goes, the more severe the myotonia on that day, the more activity will show on the EMG. The first time I had an EMG I was having a very very bad day and my muscles sounded like dive bombers and motorcycles. I literally sounded like some sort of engine. The last time I had an EMG I was having a very good day, and most of my muscles were silent. They only picked up a slight signal in my calves and they had to try a few times to find it. I had another EMG a few years ago on a good day though and that neurologist picked up a weak but tell tail myotonia signal the second he stuck the needle in...again in my calves, even though I couldn't feel any myotonia myself. He called it "micromyotonia" :-)

A doctor who is knowledgeable will know that severity of symptoms with these disorders can fluctuate, and an EMG might not always pick anything up.

If you don't mind me asking, do you know what mutations you have exactly? It should say on the report thought it might not state them directly. I'm not familiar with what lab does the test in Sweden but in the US the testing lab reports the mutations using the codon and nucleotide position and the amino acid change, and that can be translated to the exact mutation.

Type of Myotonia: Becker

Country: USA

Re: DNA result = Becker

Hi Jenna!

Micromyotonia...hehe..

My Dr told me when he examined me that I had one mild form...but this was on a good day, and maybe he said so because that the EMG I took a couple of weeks prior that showed just mild. Personaly I disagree because the days when I feel the symptoms I feel handicaped in many ways.

I wonder if the Beckers come in different degrees of severity? Is that why you and several others here ask and tell the mutationcode nr?

In the letter i received home the dna test nr didt tell the nr only the sort of mc..maybe i should ask my dr...

Type of Myotonia: Becker

Country: Sweden

Re: DNA result = Becker

Hej MTI

Har läst din föregående post. Hur kunde inte läkarna ta dig på allvar? Dom måste ju ha sett att du hade svårt o röra dig och att du var stel. Mycket märkligt.
Jag fick reda på att jag hade Beckers myotonin när jag var 6 år gammal. Mina föräldrar upptäckte nåt var fel när jag inte kunde gå ur bilen sj utan att jag trillade och slog mig varje gång.

Har du kollat denna sidan? http://www.socialstyrelsen.se/ovanligadiagnoser/myotoniacongenita

Den har bra information

/Robert

Type of Myotonia: Becker

Country: Sweden

Re: DNA result = Becker

Hej Robert!

Jag var väldigt aktiv som barn, dansade och höll på. Mina föräldrar märkte aldrig någonting. Dom kanske tyckte jag var lite klumpig och lat iof sig Kan hända att dom har lite dåligt samvete över att dom inte såg någonting idag...

Kunskapen bland allmänläkare verkar inte vara den bästa över sådana här symptom, verkar det som. Det var när jag blev gravid det blev ohållbart att gå omkring såhär stel och i obalans,en observant läkare på MVC skickade mig vidare till en neurolog.
Socialstyrelsens information är bra men att höra andra mc drabbade personers berättelser ger mer tycker jag...

Skulle vara intressant att få höra mer från dig och hur du upplevt din MC...Är du med i NHR osv? Kontakta mig gärna

miss_regina74@hotmail.com

Type of Myotonia: Becker

Country: Sweden

Re: DNA result = Becker

Hello M.T.I.

I too have Becker's MC.

I find the muscle weakness very noticable, my arms or legs can give way at the joints without any warning. I have to be carefull when carrying heavy things or reaching for anything above head height.

Even when 'warmed up' my muscles can suddenly give way, but for the most part they do behave normally. I take flecainide and it helps with the siffness but not with the weakness.

Type of Myotonia: Becker's

Country: England