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Cause of hypotonia
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Cause of hypotonia

Hello
I have a 8 month old that was diagnosed with hypotonia so we are trying to figure out what is causing his sever muscular delay. We have done genetic testing and MRI, EEG, and vision screening and everything has come back normal. We have started OT services and have seen small improvements but I am not sure what other services I can search for. I am still very concerned about his sleep position which is a reversed fetal position. His neck looks overextended and I am concerned that it is causing breathing issues. He wakes very stiff and fists clenched like he could be having a seizer. Doctors don’t seem to be concerned about these unusual sleep positions and situations but I am. My pediatric neurologist wants to start him on seizer meds but I am torn on why nothing is showing on the EGG or MRI. Does anyone out there have a similar situation I feel like I am alone on this fight.  I would like to continue moving forward and not just sit and wait. Please Help parent looking for answers.
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Avatar_f_tn
Hello Dear,
Hypotonia is a medical term used to describe decreased muscle tone.  It is not the same as muscle weakness, although the two conditions can co-exist.  Hypotonia may be caused by trauma, environmental factors, or by genetic, muscle, or central nervous system disorders, such as Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease.  Sometimes it may not be possible to find what causes hypotonia.  Infants with hypotonia have a floppy quality or “rag doll” appearance because their arms and legs hang by their sides and they have little or no head control.  Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, lethargy, ligament and joint laxity, and poor reflexes.  Hypotonia does not affect intellect.  However, depending on the underlying condition, some children with hypotonia may take longer to develop social, language, and reasoning skills.
Treatment begins with a thorough diagnostic evaluation, including an assessment of motor and sensory skills, balance and coordination, mental status, reflexes, and functioning of the nerves.  Diagnostic tests such as a CT scan of the brain, an EMG to evaluate nerve and muscle function, or an EEG to measure electrical activity in the brain may also be necessary.  Once a diagnosis has been made, the underlying condition is treated first, followed by symptomatic and supportive therapy for the hypotonia.  Physical therapy can improve fine motor control and overall body strength.  Occupational and speech-language therapy can help breathing, speech, and swallowing difficulties.  Therapy for infants and young children may also include sensory stimulation programs.
You should take a second opinion and again get the investigations done.
Refer http://www.ninds.nih.gov/disorders/hypotonia/hypotonia.htm
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Avatar_n_tn
Thank You for your reply! I am going to look through all our paper work and make sure we have done all the testing you suggested. Have you ever heard about the odd sleep positions and stiffness during sleep being a factor with Hypotonia. My son sleeps in a reverse fetal position where his neck looks hyper extended back almost touching his backside. His fists are clenched and very still in the morning. Where would I go to have this symptom check? The specialists I have seen so far do seem to think this is not a  issue but my gut tells me different.
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Avatar_n_tn
My son was diagnosed with hypotonia at birth.  We've been told that hypotonia will delay him with physical milestones, and can result in mental delays as well.  He is now 8 years old, can't walk without help, but more importantly he is severely behind mentally.  No speach besides limited vocal sounds, he is a joy, happy, but is still startled by noise, new environments make him unhappy, music will sometimes cause him to cry if its not "happy" sounding.  He functions mentally at around a 1 year old level.

He was checked for PW, normal chromosomes, normal ekg, muscle test was normal.  The tests were becoming ever more invasive so we decided to rest for awhile, now we're thinking maybe its time to search some more for answers.

Anybody heard of something similar?
Thanks  
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Avatar_n_tn
My baby girl is 12 months old.  She has never born weight on her legs, even with assistance.  She does a lot of head rolling, esp. when tired, but even when well rested.  Her language development is WNL, and her fine motor skills are good, maybe even a bit advanced for age.  I have been bugging the pediatricians in her group that I am concerned about her legs.  They say, "You didn't walk til 18 months, don't worry".  I don't care when she walks, I'm concerned about the inability to bear weight or get up on all fours.  I bugged them enough to get a neuro appt, he said she has "mild motor delay".  No xrays, ct, anything.  I think she has a deep sacral dimple, he does not.  I'm a peds rn, so not entirely clueless here.  Should I be more pushy?  I did manage to get a hip xray out of the pediatrician, and she is going to PT for the "mild motor delay".  PT tells me, yes, she is hypotonic trunk and lower body.  And possibly sensation-seeking (head rolling).  Why would this be?  What can I do from here?  She has an OT eval on Friday. Thanks for any and all help.
-Kathy
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Avatar_n_tn
I have a 12 yr old daughter that was born a medical emergency. She had a T-fistula and VSD. This was a perfect pregnancy so it really took us by suprise. She has alot of the same symptoms that you talked abt in your descriptions. Doctors have not been able to tell us much and we really have found much of the info ourselves and then brought to the doctors. She does have Hypotonia which from my understanding is never a condition by itsef....meaning it is always assc. w/another disorder. This is where it really gets difficult...she is 12 and still not diagnosed. She sits in a "W" position (hypotonia), has over rotation in all of her joints, curvature in all of her long bones, abnormal spacing of eyes, ears and nose but only slightly, hearing problems, eye sight issues, dental issues, I think also ADD. Shes is the sweetest kid but others dont like her because she is so different. Mathmatics are almost impossible for her to grasp but she is a very advanced reader. I am also a Gulf War Veteran and was exposed to Chemical weapons in 1991. I'm worndering if there might be some possible connection there?...I wish all of you luck as we have searched for answered for years and are about to start the process all over again. Please feel free to contact me..***@****
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