Monday, February 27, 2012

What are CPK, Aldolase, and Benign Hypotonia?

So, after leaving Dr Leber's office and after the letter came in the mail containing the test results, we had a lot more questions that answers.  So, Tony and I both took to Google to find out all we could.  CPK and Aldolase are the two tests that Dr Leber wanted.  Here is a little information about these tests.

CPK:
The body creates an enzyme called 'creatine kinase' (also known as CPK/CK) that normally lives inside  muscles. That enzyme (protein) is important for energy production within muscle fibers. When muscles are functioning normally, CPK levels in the bloodstream are relatively low. But when muscles are damaged, the muscle cells split open, causing their contents to spill out into the bloodstream. This creates a rise in the levels of CPK in the blood. In Duchenne muscular dystrophy(DMD) there may be 10 to 100 times the normal amount. Measuring CPK levels may verify that there has been muscle damage and may indicate more muscle damage to come.  (http://www.parentprojectmd.org.np/Contents/Main/Diagnosis.html)

Aldolase:
Aldolase is an enzyme found throughout the body, particularly in muscles. Like all enzymes, it is needed to trigger specific chemical reactions. Aldolase helps muscle turn sugar into energy. Testing for aldolase is done to diagnose and monitor skeletal muscle diseases.  Skeletal muscle diseases increase the aldolase level found in a person's blood. Skeletal muscles are those muscles attached to bones and whose contractions make those bones move. When the muscles are diseased or damaged, such as in muscular dystrophy, the cells deteriorate and break open. The contents of the cells, including aldolase, spill into the bloodstream. Measuring the amount of aldolase in the blood indicates the degree of muscle damage.(http://www.healthline.com/galecontent/aldolase-test)

Bella's CPK levels came back in the normal range, while her Aldolase levels were slightly elevated.  Dr Leber was concerned, so that is why he sent her test results to Dr Dowling.  Based on the levels and Dr Leber's examination, Dr Dowling saw no reason to see Bella.  As stated in a prior post, he thought she might have something called Benign Hypotonia, but that was not a reason for her to see him at that time.  So, what exactly is Benign Hypotonia?

Benign Hypotonia:
Benign congenital hypotonia (BCH) is a diagnosis of exclusion given to many children after all tests have been exhausted. In some cases, families are never given a diagnosis for their child. BCH is a nonprogressive neuromuscular disorder that does not worsen but tends to improve with time and intervention. The cause of BCH is unknown and there is no cure. Researchers have found a high familial incidence that may indicate BCH is of autosomal dominant, genetic origin (Cohen, 1998). There is no genetic testing available for BCH at this time.(http://www.earlychildhoodmichigan.org/articles/8-03/CohenWhitt8-03.htm)

Dr Leber had explained to us that if she did have Benign Hypotonia it just meant that she had low muscle tone and would always have to work at keeping her muscle tone.  He said she wouldn't be picked first for sports, but she would be able to at least participate.  He gave us the telephone number to a place called Early On and told us to contact them to start physical therapy, which should help Bella become stronger.  Thus began the run around and jumping through hoops to have Bella evaluated and entered into the Early On Program.


1 comment:

  1. Stay strong! Dealing with a chronic health condition is exhausting. If you can find a support group for you and Tony it will help. Being surrounded by other parents will make you feel supported and help you find solidarity. It took me three years of strong advocacy to get my fibromyalgia diagnosed and properly treated. Help is out there and is sounds like you have some great resources at your hands. I think starting this blog was a great idea to provide you with an outlet.

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