Central Core Myopathy

Posted by lynnelliott7 @lynnelliott7, Jul 11, 2021

I am interested in receiving information regarding ¨Central Core Myopathy¨ We were told by my husband´s doctor that they don´t have much information available. My husband is currently in a research program. Has anyone else received this diagnosis?

Interested in more discussions like this? Go to the Bones, Joints & Muscles group.

Hello @lynnelliott7, Welcome to Connect. I did a search of Connect and was not able to find another member with the specific diagnosis of Central Core Disease (Myopathy). Here are a few references that may help provide more information for you on the condition.

— Central core disease: https://rarediseases.info.nih.gov/diseases/6014/central-core-disease
— Central core disease/malignant hyperthermia susceptibilty: https://www.mda.org/disease/congenital-myopathies/types/central-core-disease

@jlw started another discussion on Non Specific Myopathy here – https://connect.mayoclinic.org/discussion/non-specific-myopathy/ and may be able to share some information with you.

Did your husband enter a clinical trial for Central Core Disease? Are you able to share a little information about the research program?

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@johnbishop

Hello @lynnelliott7, Welcome to Connect. I did a search of Connect and was not able to find another member with the specific diagnosis of Central Core Disease (Myopathy). Here are a few references that may help provide more information for you on the condition.

— Central core disease: https://rarediseases.info.nih.gov/diseases/6014/central-core-disease
— Central core disease/malignant hyperthermia susceptibilty: https://www.mda.org/disease/congenital-myopathies/types/central-core-disease

@jlw started another discussion on Non Specific Myopathy here – https://connect.mayoclinic.org/discussion/non-specific-myopathy/ and may be able to share some information with you.

Did your husband enter a clinical trial for Central Core Disease? Are you able to share a little information about the research program?

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Thank you so much for the information, John. It was very informative. My husband is involved with the Rare Genomes Project. Typically, the results take 6 months to finalize. We were told it should be sometime this summer.
His muscle weekness along his spine has become worse recently and he compensates by bending forward while experiencing shortness of breath only when walking. He can bike and kayak without symptoms as he is sitting for both. I would appreciate all information in respect to this issue. Thank you!

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@lynnelliott7

Thank you so much for the information, John. It was very informative. My husband is involved with the Rare Genomes Project. Typically, the results take 6 months to finalize. We were told it should be sometime this summer.
His muscle weekness along his spine has become worse recently and he compensates by bending forward while experiencing shortness of breath only when walking. He can bike and kayak without symptoms as he is sitting for both. I would appreciate all information in respect to this issue. Thank you!

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@lynnelliott7 – The Rare Genomes Project (https://www.youtube.com/watch?v=ux4_MwSALrc) sounds like it provides a lot of hope for many people. I hope you find some answers for your husband. Here is an article on breathing exercises that provides some tips that may be helpful.

Breathing problems and exercise — https://www.betterhealth.vic.gov.au/health/HealthyLiving/breathing-problems-and-exercise

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Hi John,
I so appreciate another article and have found them all so informative. That being said, when I click on the pre-exercise screening tool it says ¨this page does not exist¨. Is there another way I can access this information? Thank you

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@lynnelliott7

Hi John,
I so appreciate another article and have found them all so informative. That being said, when I click on the pre-exercise screening tool it says ¨this page does not exist¨. Is there another way I can access this information? Thank you

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Sorry, that happens sometimes when websites link to other websites and the information is moved. I went to the actual website and did a search and found what they were linking to before.

Adult Pre Exercise Screening System: https://fitness.org.au/articles/policies-guidelines/adult-pre-exercise-screening-system/4/18/20

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Hi John, Thank you for the additional information. My husband does exercise on a regular basis. He was given specific exercises by his physical therapist for his condition. However, in one of the articles you sent they mentioned breathing exercises . That is actually what I thought this screening system was. Is there any articles that you are aware of that focuses exclusively on breathing exercises? Again, I appreciate your help.

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@lynnelliott7

Hi John, Thank you for the additional information. My husband does exercise on a regular basis. He was given specific exercises by his physical therapist for his condition. However, in one of the articles you sent they mentioned breathing exercises . That is actually what I thought this screening system was. Is there any articles that you are aware of that focuses exclusively on breathing exercises? Again, I appreciate your help.

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Here are some breathing exercises from the American Lung Association – https://www.lung.org/lung-health-diseases/wellness/breathing-exercises

Also, some other reference links on breathing, one for COVID but would still may be helpful. The last link mentions straw breathing which focuses on exhaling through a straw which I thought was interesting :
— Coronavirus Recovery: Breathing Exercises: https://www.hopkinsmedicine.org/health/conditions-and-diseases/coronavirus/coronavirus-recovery-breathing-exercises
— What exercises can help increase lung capacity?: https://www.medicalnewstoday.com/articles/323787
— Breathing Techniques: https://www.takingcharge.csh.umn.edu/activities/other-relaxation-methods

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@johnbishop

Here are some breathing exercises from the American Lung Association – https://www.lung.org/lung-health-diseases/wellness/breathing-exercises

Also, some other reference links on breathing, one for COVID but would still may be helpful. The last link mentions straw breathing which focuses on exhaling through a straw which I thought was interesting :
— Coronavirus Recovery: Breathing Exercises: https://www.hopkinsmedicine.org/health/conditions-and-diseases/coronavirus/coronavirus-recovery-breathing-exercises
— What exercises can help increase lung capacity?: https://www.medicalnewstoday.com/articles/323787
— Breathing Techniques: https://www.takingcharge.csh.umn.edu/activities/other-relaxation-methods

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Good Morning John, These are exactly what we were looking for! He is looking forward to impletementing these exercises into his daily routine. Can´t thank you enough.

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