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Waiting for Diagnosis

My 8 year old son starting having muscle symptoms abruptly in July 2013, and we have been seeking diagnosis ever since. We are currently working with Cincinnati Children's Hospital to arrange a visit to their neuromuscular center, as our local pediatric neurologists have been unsuccessful in diagnosing him, and have even suggested that his symptoms are behavioral (not medical). Needless to say I'm extremely frustrated, and while doing all the research I can for the last 7 months and came across a description of Becker's Myotonia Congenita- and it sounds like this might be what he has. We have requested the a test for the chloride channel mutation that causes Becker's but are currently waiting for our insurance to approve it. Here is what he has experienced:
- spontaneous muscle spasms in arms and legs which are very painful
- the spasms never occur while he is physically active
- spasms last anywhere from a few minutes to 45 minutes
- weakness in arms and/or legs that lasts as long as a few hours
- abrupt falls with no apparent cause
- when leg weakness occurs he walks as if he is drunk
- during arm spasms he often unable to speak, or slurs his speech
- difficuly breathing and/or chest pain during spasms
- he often experiences spasms when very hungry or when angry

Does this sound like Beckers? Some of his symptoms were not listed on he websites I have read. Thanks for any feedback you may have.

Type of Myotonia: Becker's ?

Country: USA

Re: Waiting for Diagnosis

Wow, that sounds pretty scary for both of you! It's unusual for myotonia congenita to have such a sudden onset and some of the symptoms don't quite fit, but it is certainly possible. Has he had an EMG that showed myotonic discharges? That would be the first step to confirming a myotonic disorder.

A couple of non-myotonic things that come to mind are lyme disease, a vaccination reaction, or an autoimmune disorder affecting his muscles or nerves like Isaac's Syndrome (neuromyotonia). If you are going to get the DNA testing it would be best to do a myotonic profile to rule out the sodium ion channels also. There are about 100 different mutations that can cause Becker's or Thomsen's MC. If a person inherits a recessive mutation from each parent, whether it's the same mutation or two different ones, then that will result in symptoms.

I guess what's difficult to know is the exact nature of the spasms. In MC they are not constant so when you say they can last 45 minutes, that is not typical. (If you have seen videos of fainting goats, that is Becker's MC - they fall and then get up right away). That part sounds more like a neurological issue. You might want to try a little magnesium when they occur and see if that helps. Thomsen's mutations affect the chloride channel a bit differently and it only takes one of those mutations to cause symptoms. In Becker's there is usually no family history except perhaps siblings, but with Thomsen's there is almost always a strong family history since children have a 50% chance of inheriting it.

The increased symptoms when his is hungry or angry does fit with MC because adrenaline is increased in both situations and that will worsen our condition. So will caffeine. The sudden weakness is usually an imbalance of potassium - sometimes a rebound effect trying to compensate for too much. Usually falls are after a startle reflex, such as tripping on something or a sudden loud noise.

We are stiff when we start moving after being inactive. For instance if you're riding a bike you might not have any symptoms, but as soon as you stop and rest it can be very difficult to walk the first several steps after you start moving again. We identify with Frankenstein or the Tin Man. It's like our legs are made out of wood. The diaphragm can be affected causing you to feel like you can't take a breath. Any skeletal muscles (as opposed to the smooth muscles of the digestive tract, bladder, etc) can be affected. We may have trouble focusing, swallowing and talking.

It often takes some detective work to figure out the triggers for sudden-onset conditions. In the case of myotonia, you can have mild symptoms that suddenly get worse if you are exposed to pesticides and herbicides, asthma inhalers, and other external factors.

If your insurance doesn't approve the testing, you can join the Periodic Paralysis Association (PeriodicParalysis.org) and get the testing done free through a lab in Germany. It takes longer to get the results but is very thorough. The paperwork is on their page under Genetic Testing.

Please keep us posted and feel free to ask any questions -

Jan

Type of Myotonia: Thomsen's

Country: US

Re: Waiting for Diagnosis

Thank you so much for your quick reply and lots of information! This has been very scary, especially because it is taking soooo long to get any answers. He has not had an EMG yet. The neurologist we plan to see in Cincinnati stated that she rarely does them on children because they are too traumatic for kids. She is planning to do a muscle biopsy to diagnose him, so we are now getting numerous heart exams done to make sure it's safe for him to undergo anethesia for the biopsy.
Thank you again for your help- I'll let you know what we find out.
-Shea

Type of Myotonia: Becker's ?

Country: USA

Re: Waiting for Diagnosis

If you ask anyone who has had a muscle biopsy, they will tell you that it is far more traumatic than an EMG. Hardly anyone does that any more unless they are trying to confirm a dystrophy or mitochondrial disease.

See if you can get a referral to a physiatrist in your area to do an EMG. They are much more gentle in my experience and I have sent several parents to them with good feedback. You can always premedicate with a small dose of a tranquilizer that your doctor prescribes and feels safe using, but most kids do just fine as long as they know it's over quickly. The EMG itself is not very painful...it's the nerve conduction study that is more uncomfortable because they actually send small shocks into the muscles.

I have never seen a biopsy report for myotonia congenita that wasn't inconclusive. I would really encourage you to hold off on that if you can. It leaves a scar which may not be as much of an issue for a boy, but it still is not usually needed. The protocol is usually EMG, DNA testing, and then if nothing shows up, consider a muscle biopsy. If you do decide to go ahead with it, we are fine with local anesthesia that does not contain vasoconstricters. So we avoid Lidocaine/Novacaine but are fine with Marcaine and Carbocaine.

Here's the protocol for general anesthesia:
http://myotoniacongenita.org/anesthesiaprotocol.doc

You can also get to it from the website link above. Normal heart function tests will not tell you if he will react to anesthesia from myotonia congenita.

Jan





Type of Myotonia: Thomsen's

Country: US

Re: Waiting for Diagnosis

Forgot to mention that the cost of an EMG is about $1500 and a muscle biopsy is about twice that (even more if it's done with general anesthesia or IV sedation) plus the pathology fee. You can see which is the better money-maker for the hospitals. I'm getting cynical in my old age :-)

Jan

Type of Myotonia: Thomsen's

Country: US

Re: Waiting for Diagnosis

Hi,
In support of what Jan said about biopsy; The reason muscle biopsy is rarely used outside of research is that an MRI can reveal most muscle abnormalities. Second, as she said they are most often inconclusive in CLCN1 defects. On the other hand they are more useful in Sodium Channel diseases (SCN4a), but here again an MRI is just as useful as a biopsy.

I am sorry but I must add more complexity to the picture. A nerve EMG makes a positive finding in 90% of Ion Channelopathies. I am among the 10% without electrical myotonia. Some who do not exhibit electrical myotonia on initial testing may still have it inferred from a test that includes muscle that is stressed by an exercise routine and cold. So if one is not prepared to test for the rarest occurance then one is not prepared to do a complete test.

If you feel in the least frustrated or insecure about your doctors, may I suggest that you make arrangements to be seen at the Neuromuscular Clinic at the University of Rochester, they are among the top three clinics in the US. Prof. Robert Griggs M.D. will respond to email sent directly to him. His address is to a staff member:
Patricia_Hopkins@urmc.rochester.edu
Good Luck, Joe

Type of Myotonia: SCN4a

Country: US