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Neuromuscular In memory of Rose Marie.

Myotonia Congenita

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Unread 04-29-2012, 10:05 AM   #11
litlebean
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Quote:
Originally Posted by dscvr View Post
I was diagnosed a couple of years ago and continued to work full time. Next week i'll be working part-time to take care of this...there has to be another way to treat this besides mexiletine. I just don't feel comfortable taking it with the side effects and such since there wasn't a dramatic difference. Trying to do research on the net for this is like running in circles. I want to find a doctor that is willing to experiment...what do you have to lose when your in pain every second of the day, right? I'm tired of reading that this is not a painful disease when that is absolutely 100 % false.
or that as you get older it gets better...lol ya right. i feel your pain and i also would be willing to be some ones test subject. im beyond frustration with this. and i would do anything to make it a litle bit better for my kids
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Unread 05-03-2012, 11:01 PM   #12
Jason'sDad
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Heart Hi guys, I'm new to this and looking for help.

My name is Jason Henning and I am reaching out to anyone after much research online and many unanswered questions. I was hoping you can take a few minutes, read my message, and point me in the right direction. Any help would be greatly appreciated as my heart hurts watching my son go through these issues.
My 15 year old son, Jason II has been having issues with is hands for about a year now. I first nofticed when I told him to grab my arm one day and his grip was non-existent. After some probing, he told me that he could barely take notes in school anymore and that his hands freeze up and hurt (not sure why he didn't tell me when it started but he is 15..)*

Symptoms & diagnosis:

Once he closes his hands, it takes 3-5 seconds for them to re-open. The pain seems to be along the muscles that go from the middle of the hand to the web of his fingers. When he repetitively opens and closes his hand as quickly as he can he said it tightens & feels very weird all the way up his arm. So far he hasn't noticed issues with other parts of his body except his legs while taking stairs. He has a lot of pain when writing, playing drums, video games etc. so it's all been limited but unlike a muscle strain, it doesn't get better after prolonged resting. The pain has gotten worse over time which is our biggest concern. He is an amazing kid, an excelling 9th grade Honors student and an aspiring artist & musician. He is a drummer and draws/paints very well & very often so his hands are obviously important.*They have already ruled out arthritis and similar issues after x-rays, blood work etc.

They believed it to be Paramyotonia Congenita & this made some sense because as I said it gets worse with repeated use. The SCN4a genetic test results were ok though from what I can see after receiving his DNA testing. Tests were inconclusive due to an unknown variant in the CLCN1 gene. The unknown is 680t to 227a. It does show a known myotonia congenita defect CLCN1 variant 1453a to 485g. Forgive me if I wrote this incorrectly but I am new to this. I find it odd that he doesn't have the warm up effect but I assume it's due to the unknown variant?? Our neurologist didn't know what to make of this and said we will need to see the geneticist. We have an appointment but it isn't until July unfortunately. Being a real estate agent, this is like another language to me but I'm doing my best to research as much as I can.


I have also had general muscle pain/aches & tightness & hand problems for over 10 years but thought it was my thyroid or fibromyalgia. My hands cramp very easily/badly between my thumb and first finger, limiting simple tasks such as cooking and home repairs (part of my job) and the muscle there is twice the size as most I compare it to. My Mother and I have gotten genetic testing also to determine if it comes from us because we have many relating symptoms. My Mother has always had general muscle pain also and we both present myotonic reactions when we clench our mouths, slow/difficult to open, etc. Results should be back soon.

Treatment-

He was prescribed Acetazolamide which he will not take unless completely necessary down the road. We do not want unnecessary side effects at such a young age & hope it's something we can control naturally. I've done some research and wonder if natural d-alpha vitamin E 200 mg, selenium and magnesium daily would help at all? He is currently taking magnesium though we're not sure if it's helping. !!!!Pplease comment on any supplements that have helped!!!

We truly appreciate any information you can pass on to help our son. This has been extremely difficult on me & my wife but we push for answers. Jason doesn't complain, is a great kid & student and we want to see him as pain free as possible & at his best. I can forward any labs, bloodwork & genetic results that you may be willing to review. Thank you in advance and again thank you for your efforts.
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Unread 05-04-2012, 12:49 PM   #13
twitchyfirefly
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Quote:
Originally Posted by Jason'sDad View Post
My name is Jason Henning and I am reaching out to anyone after much research online and many unanswered questions. I was hoping you can take a few minutes, read my message, and point me in the right direction. Any help would be greatly appreciated as my heart hurts watching my son go through these issues.
My 15 year old son, Jason II has been having issues with is hands for about a year now. I first nofticed when I told him to grab my arm one day and his grip was non-existent. After some probing, he told me that he could barely take notes in school anymore and that his hands freeze up and hurt (not sure why he didn't tell me when it started but he is 15..)*

Symptoms & diagnosis:

Once he closes his hands, it takes 3-5 seconds for them to re-open. The pain seems to be along the muscles that go from the middle of the hand to the web of his fingers. When he repetitively opens and closes his hand as quickly as he can he said it tightens & feels very weird all the way up his arm. So far he hasn't noticed issues with other parts of his body except his legs while taking stairs. He has a lot of pain when writing, playing drums, video games etc. so it's all been limited but unlike a muscle strain, it doesn't get better after prolonged resting. The pain has gotten worse over time which is our biggest concern. He is an amazing kid, an excelling 9th grade Honors student and an aspiring artist & musician. He is a drummer and draws/paints very well & very often so his hands are obviously important.*They have already ruled out arthritis and similar issues after x-rays, blood work etc.

They believed it to be Paramyotonia Congenita & this made some sense because as I said it gets worse with repeated use. The SCN4a genetic test results were ok though from what I can see after receiving his DNA testing. Tests were inconclusive due to an unknown variant in the CLCN1 gene. The unknown is 680t to 227a. It does show a known myotonia congenita defect CLCN1 variant 1453a to 485g. Forgive me if I wrote this incorrectly but I am new to this. I find it odd that he doesn't have the warm up effect but I assume it's due to the unknown variant?? Our neurologist didn't know what to make of this and said we will need to see the geneticist. We have an appointment but it isn't until July unfortunately. Being a real estate agent, this is like another language to me but I'm doing my best to research as much as I can. ...
Has he had an EMG?
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Unread 05-11-2012, 09:01 AM   #14
Jason'sDad
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Location: Tampa, FL
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Quote:
Originally Posted by twitchyfirefly View Post
Has he had an EMG?
Yes. he's had 2. The first neurologist jumped the gun without any genetic testing and said she thought he had myotonic dystrophy but that was ruled out in the genetic tests.
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Unread 10-03-2012, 04:57 AM   #15
Galaxy31
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Quote:
Originally Posted by Jason'sDad View Post
My name is Jason Henning and I am reaching out to anyone after much research online and many unanswered questions. I was hoping you can take a few minutes, read my message, and point me in the right direction. Any help would be greatly appreciated as my heart hurts watching my son go through these issues.
My 15 year old son, Jason II has been having issues with is hands for about a year now. I first nofticed when I told him to grab my arm one day and his grip was non-existent. After some probing, he told me that he could barely take notes in school anymore and that his hands freeze up and hurt (not sure why he didn't tell me when it started but he is 15..)*

Symptoms & diagnosis:

Once he closes his hands, it takes 3-5 seconds for them to re-open. The pain seems to be along the muscles that go from the middle of the hand to the web of his fingers. When he repetitively opens and closes his hand as quickly as he can he said it tightens & feels very weird all the way up his arm. So far he hasn't noticed issues with other parts of his body except his legs while taking stairs. He has a lot of pain when writing, playing drums, video games etc. so it's all been limited but unlike a muscle strain, it doesn't get better after prolonged resting. The pain has gotten worse over time which is our biggest concern. He is an amazing kid, an excelling 9th grade Honors student and an aspiring artist & musician. He is a drummer and draws/paints very well & very often so his hands are obviously important.*They have already ruled out arthritis and similar issues after x-rays, blood work etc.

They believed it to be Paramyotonia Congenita & this made some sense because as I said it gets worse with repeated use. The SCN4a genetic test results were ok though from what I can see after receiving his DNA testing. Tests were inconclusive due to an unknown variant in the CLCN1 gene. The unknown is 680t to 227a. It does show a known myotonia congenita defect CLCN1 variant 1453a to 485g. Forgive me if I wrote this incorrectly but I am new to this. I find it odd that he doesn't have the warm up effect but I assume it's due to the unknown variant?? Our neurologist didn't know what to make of this and said we will need to see the geneticist. We have an appointment but it isn't until July unfortunately. Being a real estate agent, this is like another language to me but I'm doing my best to research as much as I can.


I have also had general muscle pain/aches & tightness & hand problems for over 10 years but thought it was my thyroid or fibromyalgia. My hands cramp very easily/badly between my thumb and first finger, limiting simple tasks such as cooking and home repairs (part of my job) and the muscle there is twice the size as most I compare it to. My Mother and I have gotten genetic testing also to determine if it comes from us because we have many relating symptoms. My Mother has always had general muscle pain also and we both present myotonic reactions when we clench our mouths, slow/difficult to open, etc. Results should be back soon.

Treatment-

He was prescribed Acetazolamide which he will not take unless completely necessary down the road. We do not want unnecessary side effects at such a young age & hope it's something we can control naturally. I've done some research and wonder if natural d-alpha vitamin E 200 mg, selenium and magnesium daily would help at all? He is currently taking magnesium though we're not sure if it's helping. !!!!Pplease comment on any supplements that have helped!!!

We truly appreciate any information you can pass on to help our son. This has been extremely difficult on me & my wife but we push for answers. Jason doesn't complain, is a great kid & student and we want to see him as pain free as possible & at his best. I can forward any labs, bloodwork & genetic results that you may be willing to review. Thank you in advance and again thank you for your efforts.
Jason's Dad:
*moderator edit*I'm not sure how to read the mutation codes you posted. On the report, if it found a CLCN1 mutation, it should read something like...

CLCN1 Variant 1: Transversion T > G
Nucleotide Position: 1238
Codon Position: 413
Amino Acid Change: Phenylalanine > Cysteine
etc

The mutation code for this one would be F413C (a prevalent recessive Myotonia Conenita causing mutation)
F is the abbreviation for Phenylalanine
C is the abbreviation for Cystine
413 is the codon position.

So at codon position 413 a phenylalanine molecule was changed to a cysteine molecule.

The warm up effect is where it becomes easier to move with each successive movement. There might be some instances where this is diminished though even in people with chloride channel myotonias. These disorders have a high degree of variability.

Last edited by Chemar; 10-03-2012 at 06:08 AM. Reason: NeuroTalk Guidelines
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muscles freeze up, muscles lock up, myotonia, myotonia congenita

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