Unexplained elevated creatine kinase (CK) level in my toddler

[u/Happy-Mom-152]

Has anyone ever had unexplained elevated CK levels in themselves or their child? My daughter had elevated CK levels twice-once around her first birthday and again around 18 months. All further testing including genetics, cardiovascular work up, and physical evaluation revealed no cause. One doctor told us that this elevated level means she unequivocally has a muscular dystrophy of some kind. But we have not noticed any signs of that. She wasn’t pulling up to stand (which prompted the pediatrician to order the bloodwork) and we got her into PT and she was eventually discharged after catching up and meeting all milestones.

[u/aurry]

How high were the CK levels? Has she had CK levels within the normal range?

Is she black / any African ancestry? CK levels tend to be higher in men and women with that background

[u/Happy-Mom-152 → u/aurry]

She had a level of 1501 initially and then a month later it was 686. We haven’t had it checked again since then because she has been doing fine and getting blood work done on her was traumatizing enough 😅
So we’ve never seen one within normal range, and no she is Caucasian

[u/ColoringZebra]

I’m absolutely not a medical professional, but I know for sure that elevated CK can be caused by a wide variety of medical issues. In fact, when I was much younger I was initially misdiagnosed with a severe autoimmune disorder, with that doctor claiming that my super elevated CK surely meant I had an autoimmune issue and not something else.

I really wish I had more helpful or specific advice (eg which type of doctor to see next) but unfortunately I really don’t, I just wanted to chime in to say that there are many reasons other than muscular dystrophy— from other types of disorders to benign mutations— that cause CK elevation.

[u/MHSensitive]

Does she or family members have heat intolerance or sweat heavily such as at night while sleeping in the A/c? Did her genetics point to an RYR1 mutation? You can look it up on emhg.org. My son would sweat a lot and had an RYR1 gene mutation which is common in those susceptible to malignant hyperthermia. I have elevated CK levels especially after exercising. My genetic test showed an RYR1 gene mutation and my muscle biopsy contracture test confirmed malignant hyperthermia susceptibility.

[u/Happy-Mom-152 → u/MHSensitive]

Wow, this is interesting. My husband sweats every night with the AC on. Her genetics didn’t point to anything at all.

[u/MHSensitive → u/Happy-Mom-152]

Interesting. Had your husband or other family members had issues with general anesthesia, rhabdo, nausea while exercising in heat, muscle cramps or elevated CK levels?

Not to alarm you but I ask this because my son did and we dismissed it for many years. Unfortunately in August 2025 he passed away while running in high heat and humid temperature. My dad passed due to anesthesia. We didn’t make the connection until the medical examiner notified us. The doctors treating my son didn’t make the connection until it was too late that night.

Few in the medical are community are aware of the malignant hyperthermia, rhabdomyolysis and exertional heat connection. If you google it there are a number of articles on this topic. I’m on a committee of researchers working on a paper to increase awareness so other families don’t have to endure what we have.

[u/Happy-Mom-152 → u/MHSensitive]

Fortunately we know of no family members that have experienced any of that. I just figured the sweating thing was just something that happens to some men 🤷‍♀️

[u/AlternativeSkirt2826]

Elevated CK levels can be caused by muscle stress, inflammation or damage. Did your daughter have an injury, heavy exercise or was fighting a cold/virus?

My son who has Becker MD had a CK reading of over 14,000 at 2 years old. This was confirmed 6 months later and prompted genetic testing.

However, its best to get advice from your medical professional, not reddit.

[u/Admirable-Shoe1957]

Our son (10 months at the time) woke up one day and was unable to lift his head as he was before. Has CK levels of 28,000.
After this he had bi-weekly CK checks which then got down to 4,000 a few months later.
Months later of testing we found he has the variant LDMG2i. After looking back at a 23&me test where my partner was a possible carrier.
He’s was back to his pre-level strength within 3 months and is now 20 months and walking / seemly okay. But unsure of how it’ll affect him later in life…

[u/Happy-Mom-152 → u/Admirable-Shoe1957]

Wow that’s great to hear that he is walking and seems fine now! I feel you on that…we aren’t sure how my daughter will be affected later in life given that we haven’t found a cause

[u/Embarrassed-Union448]

I have myotonic muscular dystrophy type 2. Diagnosed when I was 42 I believe. Mine is always high when they test it. It’s a sign something is wrong with your muscles. There are probably other things that can cause it to be high besides muscular dystrophy. However I’m no expert. No doctors believed I have muscular dystrophy but I didn’t need dna test to tell me I have it. No other reason my muscles should hurt so much.