diagnosis of generalized hypotonia

We changed pedis and saw the new one today. I really liked how thorough he was examining the babies.
He diagnosed Nefeli with generalized hypotonia. This was no surprise to us. She is progressing but slowly. We've been concerned for sometime now.
He assured us that she will have full functioning later on but that it will be slower for her to achieve milestones. He didn't specify a reason but listed a number of possible ones.
He recommended physiotherapy to help her along. I know she needs pt this that the time is right for her to start because I see she is getting frustrated. He recommended someone who I have seen speak in a conference and was very impressed by her so I feel good about her.
She's such a lovely creature and I feel she's getting less attention than her sister Iris because she isn't as active and people arent' taking the time to interact with her.
I would have loved it if he said everything is going well.
:mellow:
Anyone else have similar diagnosis? any information in this? anything that has helped your baby along?
I'm sad but optimistic about this. You know how sometimes you know something but putting it into words changes things?

 

QUOTE
You know how sometimes you know something but putting it into words changes things?


I know exactly what you mean. It makes it real. :hug99: I'm sorry about the diagnosis, but it sounds like with PT, she will be fully functioning, it might just take her a little longer to get there. I am glad you like the new ped, it helps when you have confidence in your doctors. :hug99:

 

Atleast now you know there is a 'name' for this. I hope things get better. :hug99:

I found this info for you:


Hypotonia is present when resistance to moving a child's leg or arm is less than normally expected. It is caused by an abnormally severe loss of muscle tone. The muscles feel soft and doughy.The cause of hypotonia may be in the brain, spinal cord, peripheral nerves, neuromuscular junction, and muscle. There are also non-neuromuscular entities that may be associated with hypotonia including;

•Prematurity
•Hypothyroidism
•Rickets
•Malnutrition
•Kernicterus (excessive jaundice in newborn period)
•Down Syndrome

In general, a good history, physical examination, and neurologic exam will lead to the diagnosis. Parents usually become concerned when the child is delayed in attaining normal milestones,



Known Causes of Hypotonia

•Central Causes of Hypotonia - Disorders of the brain secondary to anoxia, bleeds, trauma, meningitis or encephalitis, structural abnormalities, chromosomal changes, and hypoglycemia (low blood sugar)
•Cervical Cord Trauma- secondary to difficult delivery, usually breech
•Anterior Horn Cell Disorders : Werdig- Hoffman syndrome- degeneration of anterior horn cells. •Autosomal recessive and 1/3 present in the neonatal period and maternal history may indicate decreased fetal movements. In addition, Poliomyelitis, a Viral infection that destroys anterior horn cells. Have asymmetric weakness. May have bulbar involvement. Can recover virus in stool
•Neuromuscular junction: Problems with transmission of nervous impulses to the muscles. An example of this cause is myasthenia gravis. Infantile botulinism- Infant will ingest spores that release an exotoxin that interferes with the release of neurotransmitters.
•Congenital Myopathy: genetic muscle diseases such as muscular dystrophy
•Benign Congenital Hypotonia (a harmless case of poor muscle tone (strength, elasticity) since birth). This problem tends to correct itself with time.

Diagnosing the cause of hypotonia in a particular child is often very difficult. Hypotonia is a symptom of many cerebral, spinal, genetic, or muscular diseases. Doctors use certain medical procedures to determine why the child has hypotonia. Computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans, electroencephalogram (EEG), a variety of blood tests, chromosome karyotyping, spinal taps, electromyography (muscle and never conduction tests), and muscle and nerve biopsy are a few of the tests which may be conducted to diagnose the cause of hypotonia. It sounds as if your son is well on his way to having a complete evaluation for his hypotonia.

Whatever the cause of your child's hypotonia, by recognizing it early, you have given him the best chance that any available treatment will greatly improve his muscle tone.

 

We didn't have this, but the son of a friend of mine was diagnosed with it. He had been late with rolling and sitting, and wasn't mobile at all at 1 yr, which is what led to the diagnosis. I don't know what kind of PT they are doing, but they started him on something ASAP, and it has made a huge difference -- he was crawling at 14 months, pulling up and crawling up stairs at 16, and walking with a push toy at 18. He's 19 months now and it seems like he'll be walking any day. Their ped said he would probably never be a star athlete, but would be able to do pretty much anything he wanted to do. So the prognosis is very good.

I do KWYM about having a name for it. Sometimes it's good to know that there's a reason, but sometimes you just want everything to be "fine." :hug99:

 

Thank you so much for your posts and support.
After reading the information KYsweatheart posted though I'm wondering if we should proceed with tests. the dr. didn't recommend any. wwyd? is it possible that the tests are for more severe cases? Nefeli does move hands and feat, can sit for a little while but will slump, grabs things, and can keep head up when on her belly and pivot around herself. She
can almost flip, goes 3/4 and then does not lift her head though.
Minette thanks for your success story. I will call the pt today to schedule.
After a good nights sleep I'm feeling better about things.

 

:hug99: I think, for now, you should just get her into the PT, and get that going, and see how well she progresses from there. Will the ped be seeing her more often for checks on her progress?

You are such a good mom. :hug99:

 

I have no information for you, just wanted to say to hang in there! You sound like a fantastic mom and your girls are lucky to have you!

 

Becky and Mandy thanks so much for your encouragement. Reading your post almost brought tears to my eyes! So rarely does anyone stop to say I'm doing ok by the girls so it's so important to hear (or read in this case)
:hug99:

 

As you can probably tell by the info you have so far, the diagnosis of hypotonia is sort of a vague catch all. I am a pediatric PT, so I work with kids similar all the time. I would definitely get PT going as soon as you can. It will look like she is just playing with Nefeli but it is in a specific manner to promote better muscle control and function. I would not worry about any additional testing at this time. Give her some time with PT and with you carrying over some of the play activities the PT shows you and see how she progresses.

Sounds like you have a really good pedi so I would trust him to monitor the need for anything additional to check. Try not to research too much, you will get a lot of overwhelming info that probably doesn't apply to your case.

Most of these kids just do things a little bit later, but are very active, competent and happy little people.
Keep up the good work!
Nancy

 

Thanks Nancy for your "inside info". Will be starting pt on Thursday. Will post on how it went.
Good to hear that most babies figure things out just fine, if a little late.
I also got the feeling that hypotonia is one of those diagnosis that mean different things for different babies so no more internet searching on this topic or else I will drive myself crazy.
Thanks ladies for your support.