Hi Vinod -
Welcome to the forum - and to the US. Hope you are enjoying your studies.

From your note, I would surmise that you most likely have the dominant, or Thomsen's type (although without DNA validation, the diagnosis of Myotonia Congenita is only one of supposition, based on patient's symptoms, personal historical information, and the EMG, which is not a true diagnostic, just an indicator.)

However, since the Becker's form is recessive, it is very highly unlikely that your mother and 2 of her siblings would have it, but your brother not, since it would absolutely only come to you via 1 gene from each parent. The possibility of your mother and 2 siblings all having the recessive form, plus your father carrying the recessive gene is truly miniscule and highly unlikely.

Since it is most probable that you have the dominant form, the chance of a child inheriting it is 50/50. I don't know what your symptoms are like, or those of your mom and her sibs, but I think most of us would agree that, if it IS Myotonia Congenita, and not one of the other disorders which have some similar characteristics but may be more severe or progressive, then living with MC can be challenging, but certainly not debilitating or truly disabling.

As you read through the threads, and perhaps some of our stories on the website, maybe some more of your questions and concerns will be answered. And, of course, we are always happy to hear your story, and give you feedback. Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Hello Vinod:

If your mother has it then, as Lois said, it is most likely Thomsen MC...assuming it is myotonia congenita and not a sodium channel myotonia.

However in parts of the world where consanguineous marriages are or were common, families have been found with multiple generations affected by recessive mutations.

If you do a google scholar search on Myotonia and India you will pull up some papers on the disorder amongst the Indian population.

The only way to know for certain what type of mutation(s) you have though is to get the genetic testing.

Type of Myotonia: Becker

Thanks for Lois and Jenna your reply. I am very happy that people are out there who care. I still have a question. If it is the dominant form, then why my bro doesn't have it.
Also my uncle and other aunts doesn't have it.

Can you tell me where I can get this tested. I am now based in Kansas doing my studies in Kansas State Uty.

All friends take care,
Vinod.

Type of Myotonia: unknown

Country: India, currently studying in USA

Vinod,

You might want to contact the Muscular Dystrophy Association office near you in the Kansas City area:

Regional Office:

3 Corporate Woods
8700 Indian Creek Parkway # 340
Overland Park, KS 66210
Primary: (913)451-3230

Health Care Services Coordinators:

Mueller, Julie
jmueller@mdausa.org

Hills, Angela
ahills@mdausa.org

It's quite expensive to pay cash for the testing and if you have student insurance in the US I don't think they will cover it, but it's worth a try. You can get it done at Athena Labs in New York:
http://www.athenadiagnostics.com
You would want test number 147.

Also, here are a few paragraphs from the National Library of Medicine's genetics page on MC. Welcome to the forum!

Jan



What genes are related to myotonia congenita?
Mutations in the CLCN1 gene cause myotonia congenita.

The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of charged atoms (ions) into and out of muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow of negatively charged chlorine atoms (chloride ions) into these cells. The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally.

Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia.

Read more about the CLCN1 gene.

How do people inherit myotonia congenita?
The two forms of myotonia congenita have different patterns of inheritance. Thomsen disease is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.

Becker disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

Type of Myotonia: Thomsen's MC

Country: US

Thank you Jan.
I would really like to test it.
I will contact the department in Kansas.

Type of Myotonia: unknown

Country: India, currently studying in USA

Vinod - Since the statistical odds of getting the dominant gene from the affected parent is 50/50, that is the approximate number of affected offspring. However, it is totally a toss of the dice - in any given family, 75% or 25% or 33% or all or none COULD be the actual outcome. But in the big picture, the average will be about half. In Jan's family, 2 of their 3 children have it. In your mother's family, she and 2 of her siblings have it, but her brother and other sisters don't - so approximately 50/50... right "on target". Lois

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA

Makes more sense, thanks.
:-)

Type of Myotonia: unknown

Country: India, currently studying in USA