Sunday, February 12, 2012

Hypotonia: Part Two: Causes & Effects


Never underestimate the passion of a parent looking for the cause of their child's medical concern. I constantly feel like I'm on CSI trying to discover who the bad guy is and all I have to work with are mixed up alibis and a hunch. Sure Down Syndrome is a suspect, but he was having dinner with Cerebral Palsy. Back to the drawing board! With each specialist, x-ray, MRI, CT Scan, EEG, NVC (nerve conduction), blood draw, and examination another clue is uncovered (we hope) or we realize that the suspect of the week is innocent and we are back to square one. Unfortunately, Hypotonia is generally seen as a symptom and usually not a stand alone diagnosis so there are hundreds of things (our Neurologist's words) that can be ruled out or in, depending on your point of view.
The John Hopkins Hypotonia Center offers an incomplete short list of 56 different known causes of Hypotonia with suspects like:
  • Down Syndrome
  • Cerebral Palsy
  • Autism 
  • Muscular Dystrophies
  • Prader-Willi Syndrome
  • Pompe Disease - Rae just had this test done and we are awaiting results.
  • Congenital Myopathies
  • Spinal Muscular Antropies - two different types
  • Benign Congenital Hypotonia (BCH) - From my understanding it's usually given when there is no other explanation.
With so many suspects to run down it is easy to see how new clues presented by another specialist can play havoc with my case against a different bad guy. How long do we continue the search? Yes, I would like to know what is causing her Hypotonia and hope that there is something that can be done. No, I don't like the idea of her being a human guinea pig with all the different tests. At some point enough will be enough and we will eventually end the search for a diagnosis (just being honest here). It just feels hopeless at times. Especially when a new suspect is tossed into paddy wagon with a rap sheet that includes heart murmurs, enlarged hearts and tongues, and a high fatality rate (Pompe Disease). That is exactly what every parents wants to hear. But, I digress...

Basically, the causes of Hypotonia range from severe to mild and everything in between. There is no easy answer, no magic cure, and no turning back. We all have to chase down the a suspect, gather evidence, and determine if he's guilty or not. It's a long, grueling, emotional investigation.


The other day I was asked by the geneticist, "What caused you to suspect that something was wrong and when?" I stammered a little during my response because initially I started to have that Gut Feeling close to 4 months of age, but didn't really pursue the issue until almost 5 months. Rae didn't roll over. Seems harmless enough...right? Well, it wasn't. Rolling over is important...very important. Now, 11 months later I realize how important rolling over actually is in a babies development. This is one of the few ways that Hypotonia effects infants and it's a pretty mild bump in a pot hole riddled road.

Here's a short list of complications and delays caused by Hypotonia:

  • Rolling over, sitting, crawling, walking, running, waving, clapping
  • Speech Delays - communication can become problematic
  • Limp limbs that hang down at their sides - Rae doesn't hold on when being held
  • Inability to gain proper head control - "Floppy Baby Syndrome"
  • Difficulty sucking, chewing, and swallowing
  • Constipation - it's all about muscle control
  • Respiratory issues/Shallow breathing
  • Postural issues - Rae has a "C" curve in her lower spine (infantile scoliosis)
  • Joint laxity - dislocations are a greater risk for Hypotonic children
  • Poor reflexes
  • Slack jaw - the mouth tends to hang open
  • Emotional melt downs...mine not hers.
Like many other medical conditions Hypotonia can have a wide range of application. Some children are more severely impacted by low muscle tone, while others are less so. In Rae's case, her arms are weaker than her legs and her trunk's (abdominal area) ability is somewhere in between. She doesn't like to put weight on her arms which is why laying on her tummy and rolling over have been difficult to master and can lead to cries of frustration. Sitting up unassisted is still a work in progress and every time she has a growth spurt she regresses. Her head control has increased, but due to its spastic instability we are are still waiting to put a Wee Ride Kangaroo seat on my bike. Even the most simplest of tasks like sucking a bottle or waving bye bye (we're still working on this one) have been difficult for Rae to master. Basically, Rae's muscles are loose and go from tense to relaxed in the blink of an eye with no warning.

There is no parenting book that can tell you what to expect and the best advice and support I have found is on an iVillage Hypotonic Support Group and the Facebook group called Hypotonic Parent Connection. We are all doing the best we can to encourage the development and happiness of our children and each other. I hope this posting helps better explain the, often chaotic, search for a cause and effects of Hypotonia.

In case anyone is's not all work and no play.

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