My mom is looking for parents of children with HYPOTONIA like me. Please forward this site to everyone you know and ask them to do the same. We are hoping to circulate this site as much as possible. In hopes to find some answers. Thank you for helping. Here is my list of symptoms
Megan’s Symptoms & Habits
These are observations made by doctors, therapists, & family, some of these may not have any relation to Megan's condition
Significant hypotonia of the trunk (low muscle tone)
Ataxia hyper/hypotonia of extremities(Fluctuating high & low muscle tone in arms & legs)
Tends to lock her elbows
ei. When she is being held she does not wrap her arms around your neck, she has them off to her sides with elbows stiff
High tone in hands
Fisted a lot of the time
Is able to open hands easily
Hands usually open while sleeping
Hand transfers well
Fair pincer grasp (improving)
Ataxia tremors/spasticity in arms & legs (tremors more evident in arms)
Mildly deep long philtrum (similar to her father’s)~
(philtrum = line between nose & mouth)
Occassionally grinds teeth
Pectus Excavatum (funnel/dipped in chest)
Ear pits on both ears
preauricular pits ~
hearing tested normal
High arched palate but not narrow and is considered normal(like mother’s)
Early eruption of teeth with a whitish coating to them, probably nothing (doctors are not worried) could be calcium
Long eyelashes (not curled)
Synophris (confluent eyebrows)
High forehead (like grampa)head circum. in the 20th percentile
Pointing of toes (flex plant) and outward
Frog legged
Delayed speech/Apraxsia?
No vocab. 2 yr. old babbles well though no real words but seems to be improving says BUB for byebye and waves by opening and closing hand
Can identify 11 body parts maybe more
Can imitate
Significant delay of fine & gross motor skills
Can tripod unassisted for a few seconds
(sitting using hands)
Tends to round her back/lean/fall forward
(overshoots)
Manipulates her body to roll ~ right side (mostly)
Uses legs & anchors with 1 hand to roll ~ not yet able to roll onto belly
Failure to thrive & temperature when gets a cold
Feeding issues Thicken fluids, small portions, tends to gag if too much in mouth (seems to be improving)
Reflux ~ Ranitidine/Zantac not controlled if upset ~ otherwise controlled for the most part
Not yet able to weight bare
Is very expressive, good eye contact, smiles, stranger anxiety, happy disposition, starting to become more & more demanding
Bridge of nose slightly dips between the eyes (like moms)(looks normal to me)
MRI presented within normal ~ slightly enlarged ventricals (non specific)
CAT Scan ~ normal
EEG ~ normal
ECG ~ normal
Sweat chloride test ~ normal (no Cystic Fibrosis)
Ultra Sound of the kidneys done ~ normal
Liver seems normal
Tested for Prader Willi Syndrome ~ test came back ~ you guessed it ~ normal!
Chromosome test ~ normal
Metabolic test ~ normal
Small hands & feet but not disproportionate
Great reflexes (reducing chances of Muscular Dystrophy)~ although they are a little jerky
Has strength in hands & legs (more in hands than legs ~ I mean she is able to move her legs just not with much coordination)
Weak shoulder girdle
Struggles with a cheerio size but can feed it to herself with some patience
Perspires often when sleeping/being fed a bottle while asleep (cold sweats) or when crying
Is able to lift legs up when flat on her back about half way (can not grab feet though unless she is sitting up) ~ can kick but not controlled
Drinks out of a habbermann bottle
Has only ever drank from a bottle asleep even now at age 2
In this picture she is NOT weight baring on her arms as it appears to be, nor is she kneeling on her own I am supporting her (thanks to professional photography).
I have been reffered to as Globally Developmentally Delayed. We welcome all comments, suggestions, and questions. We are asking for prayers for our Megan to grow stronger everyday and to give thanks for all that God has given us thus far.
