My LMB has Hypotonia, and so do I!

I knew this for a while, like about 9 months. Yes, I mean I didn’t know I had Hypotonia until 9 months ago.

I just started researching Hypotonia today. I don’t know why I waited so long. I have my suspicions.

The neurologist who diagnosed LMB (and me, I might add) with Hypotonia was talking a lot about how we should just be tracking symptoms and not worrying about putting a label on them until we can find all the symptoms. He would then say things like ‘even if we can somehow label this as a syndrome or something else, all we can do is treat the symptoms, so don’t worry too much and just try and help him as best as you can.’ These were all scary red flags combined with a good explanation of Hypotonia symptoms and how to alleve them. Which seemed like he was both giving us a lot of information and also leaving a hell of a lot out.

Well, today I just discovered what he was leaving out. Or at least a major part of it.

Hypotonia, otherwise known as low muscle tone, is basically a condition where the body has mild problems controlling or conditioning the muscles. Motor skills delay is often observed, along with hypermobile or hyperflexible joints, drooling and speech difficulties, poor reflexes, decreased strength, decreased activity tolerance, rounded shoulder posture, with leaning onto supports, and poor attention and motivation. I have seen many of these symptoms in both LMB and myself.

Hypotonia is considered itself merely a symptom of something else wrong. If they cannot find out what that thing is, they call it Benign Congenial Hypotonia. Which apparently is another way of saying they think that there is an underlying problem but they don’t know what it is. There is also a nice long lists of things that could be wrong and Hypotonia would just be the symptom. Some would be obvious at birth and some might not be so obvious. Here is a partial list of possible things that Hypotonia might be a symptom of₁:

Congenital – i.e. disease you are born with (including genetic disorders presenting within 6 months)

• Genetic disorders are the most common cause
  • Down syndrome – most common
  • 3-Methylcrotonyl-CoA carboxylase deficiency ^[1]
  • Achondroplasia
  • Aicardi syndrome
  • Canavan disease
  • Centronuclear myopathy (including myotubular myopathy)
  • Central core disease
  • Familial dysautonomia (Riley-Day syndrome)
  • Griscelli syndrome Type 1 (Elejalde Syndrome)
  • Infantile spinal muscular atrophy such as Werdnig-Hoffman disease
  • Krabbe disease
  • Leigh’s disease
  • Marfan’s syndrome
  • Menkes syndrome
  • Methylmalonic acidemia
  • Myotonic dystrophy
  • Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy (GCE)
  • Prader-Willi syndrome
  • Rett syndrome
  • Septo-optic dysplasia (de Morsier syndrome)
  • Tay-Sachs disease
  • Trisomy 13
  • 22q13 deletion syndrome
  • FG syndrome

• Developmental disability
  • Cerebellar ataxia (congenital)
  • Sensory integration dysfunction
  • Developmental dyspraxia
  • Hypothyroidism (congenital)
  • Hypotonic cerebral palsy
  • Teratogenesis from in utero exposure to Benzodiazepines

I have to admit that at first I was extremely worried. After all, what if my son was a ticking time bomb of potential syndrome manifestation! What if he has something seriously wrong with him and he is just too young for any doctor to diagnose properly, or maybe he is too young to manifest additional symptoms of the problem but he will later?

Then I started thinking again. He most likely has the same level of condition that I have. I am fairly sure that I do not have any additional problems beyond Hypotonia itself. So while I am not so foolish to completely write off the possibility that LMB might have other issues I am fairly certain that Hypotonia is the worst things are going to get.

What exactly does that mean to me now? Well, he is already up to crawling and cruising. He is starting to walk, but he is still not comfortable with it. He has gotten eating pretty much down pat, he can eat a whole blackberry! So we still need to try and work him on his speech and just watch him constantly on his motor skills. We also have to be sensitive to the reality that he will get tired much quicker than other kids when learning how to control different muscle sets.

I am fairly confident that in the long run he will turn out fine.

Now I also know why I often fell so damn tired when I thought I really didn’t do all that much some days…

1. Hypotonia, from Wikipedia, the free Encyclopedia!