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  • #184185
    12 year old possible FSHD

    Looking for help:

    My son (12 years old) just 7 weeks ago was the most athletic kid in his class; no physical issues at all. I know I’m his dad but he really is a super athlete.

    During a basketball game he falls and suffers a pars defect at L5. Begins limping for 3 weeks. Loses his limp and walks normal. We then begin to notice his whole right side is weak. He can barely activate his quadriceps muscle. Very Little bicep strength and no tricep strength. Poor shoulder strength. Also has foot drop.

    Left side is all normal. I think good core strength. He can hold a plank for 1 minute.

    Went to neurologist. 112 CK levels, normal alt and ast levels. Normal thyroid stimulating hormone level.

    No facial weaknesses, he can whistle, swallow.

    No family history.
    EMG and NCV results were normal but don’t match muscle weakness.

    Love to hear your thoughts.

    jsett2205
    Participant
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    Joined: 29/12/2019
    #184188
    Reply To: 12 year old possible FSHD

    Hello and welcome to forum.

    If his first stage labs are normal range the next step to know for sure if a MD would be a biopsy which your doctor would be best to talk about.

    Was his onset symptoms after a back injury? Did they do xrays. MRI to check for bone or nerve damage.

    Was his CK levels test at rest then after activity?

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #184189
    Reply To: 12 year old possible FSHD

    Hello and welcome to forum.

    If his first stage labs are normal range the next step to know for sure if a MD would be a biopsy which your doctor would be best to talk about.

    No muscle biopsy yet. Yes his symptoms were right after he suffered an L5 pars defect but the MRI showed no nerve damage. We have a cervical MRI tomorrow.

    CK levels were taken day after a workout. 112 from what I’ve seen is normal.

    jsett2205
    Participant
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    Joined: 29/12/2019
    #184190
    Reply To: 12 year old possible FSHD

    Hello and welcome to the forum. Cat is absolutely right that a muscle biopsy , should be the next step, or even DNA testing to determine if he does indeed have an underlying FHSD . However there are complicating factors that might suggest other causes. Always remember that not everyone with FHSD, or anything else for that matter, gather exactly the same symptoms. So having the tests done can at the very least rule out FHSD and you can look elsewhere. If they indicate the presence of FHSD, by, say, faulty genetics then again you can begin to tackle it appropriately. You indicate you have spoken to an MD, but have you spoken to a neurologist? I would have thought that would be a given witht eh symptoms you have described.
    Do please keep us up to date with progress.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #184192
    Reply To: 12 year old possible FSHD

    We are with a neurologist now. We have a cervical MRI scheduled today. Hoping to see some nerve damage.

    jsett2205
    Participant
    Posts: 0
    Joined: 29/12/2019
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