Discussions By Condition: I cannot get a diagnosis.

Muscular Dystrophy?

Posted In: I cannot get a diagnosis. 1 Replies
  • Posted By: hidcarter
  • April 16, 2009
  • 05:37 PM

I am currently watching a 3 1/2 year old boy during the week while his parents are working. I have been keeping him since December. From the first day I have had him, I could tell something wasn't right with him. Everyone around him asks me what he has. Everyone notices something, except for his parents. They are completely oblivious to the problems he exhibits. I have been doing research online trying to come to some type of conclusion since I can't speak to a doctor about it. This sweet little boy has extreme difficulty climbing stairs and going down them. He walks a lot on his toes. He has difficulty running. He has a hard time feeding himself. He doesn't have a clue how to dress himself. He walks with more of jerky and stiff movements. His speech is no where where it should be for a 3 year old. He doesn't like to interact with other kids. Also, when he wakes up he shakes a lot.
I want to talk to his parents about it....but they are the type, at least the mother is, that would take it personally and get defensive. I want to help him, but not sure what to do.
Any thoughts would be greatly appreciated! Thank you in advance.

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  • Children with cerebral palsy often walk on their toes and develop what's known as a festinating gate, or in other words, they seem to stride at a pace sufficient to keep their body directly above their legs causing a slight forward leaning posture. Spasticity in the various large muscle groups is not uncommon, with myoclonic activity upon awakening. Cognitive deficits are virtually always present as well. Other differentials to consider might be autism or even Apserger's syndrome, in which affected children can demonstrate similar coordination difficulties. In Asperger's, however, the child would tend to trespass common social boundaries and be rather invasive, abrupt, and indifferent to the traditional social interactions that yield personal space. Muscular Dystrophy, particularly Duchenne's MD, might fit the clinical description, but more likely Myotonic Dystrophy, also called Steinert's disease, since he has more rigid and jerky type motions. In most cases of muscular dystrophy, children are wheelchair-bound at an early age because of significant weakness. Still, Duchenne's could be possible for a child that age to demonstrate the symptoms described and one of the hallmark characteristics is that children so afflicted must roll over on their stomach and lift themselves in a tent fashion as they position their hands and feet toward a pike position in order to finally stand upright. As for fear of reprisal in mentioning the circumstances to the parents, it is very rare for parents not to have already had a child like this evaluated in the industrialized world. While it's observed in some third-world countries, the parents probably are already aware of what troubles their child. If by some chance they don't, then you do no harm in simply asking out of sheer curiosity what may be wrong. If they tell you specifically what he's been diagnosed with, then the matter is very likely being dealt with as best as possible. If by some rare chance they haven't elected to investigate, which again is highly unlikely, then seeking to intervene might well produce the wrath you suspect. Best regards, J Cottle, MD
    JCottleMD 580 Replies Flag this Response
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