My 9 yo son has achy/tired legs much of the time. He has this visual disturbance also. He says that everything around him goes black, except right before it, he sees a white outline of things if they are moving (people, cars, cat). He does not lose conciousness and says he can hear everything around him during. Afterwards though, he says he is tired. Could this be part of Muscular Dystrophy? Beckers runs in my family. I had a CK test done, which came back in the normal range. Could this be sensory seizures?
Can I ask who in your family has Becker Muscular Dystrophy?
Although some of your son's symptoms occur in BMD, they could also be explained by other conditions such as Duchenne muscular dystrophy, congenital muscular dystrophy, Emery-Dreifuss muscular dystrophy, congenital myopathy, etc. It would be important to differentiate the presence of BMD from these conditions.
Serum creatine kinase may be elevated in BMD but is not confirmatory of the diagnosis. So is EMG. A muscle biopsy or genetic test is confirmatory, especially in the setting of positive family history.
It would be best to have your son assessed fully by a neuropediatrician.
My maternal grandfather and all of his 4 brothers had the disease and it has not appeared since. I realize that it can skip every other generation, though this isn't a hard and fast rule.
His CK test was in the low normal and I was relieved by that.
I was wondering about the sensory seizure disorder though. He was born at 40 weeks, weighed 10 lbs and had to be coded when he was born as the cord was around his neck. He is very bright and has had no problems in school, etc.
We do have an appointment with a Neurologist. If the CK test is low end normal, will they still continue with the EMG or muscle biopsy? I was thinking that a normal CK test was a good thing.
How is your son feeling now?
Regarding Muscular dystrophy, they are diagnosed on basis of four obligatory criteria viz. They are purely myopathy (otherwise the patient is fine), has a genetic basis (rune in family and also definite marker is available on chromosomal analysis), course is progressive (involving first lower limb than upper limb) and degeneration and death of muscle fibers occur at some stage in the disease.
Regarding BMD, it runs in the family and none of the girls are affected (as it is true in your son’s case-maternal grandfather and his brother).
Can you tell me about his developmental milestones, like when did he start holding his head, started to walk, run etc.
How is his posture while walking?
How is his calf muscle, does it look hypertrophied?
Seizure incidence is more in such patients than general pediatric population.
Cardiac assessment by echo, ECG and Chest X-ray is important and should be periodic.
A first case in the family in recent times, even if clinical features are typical, should have the diagnosis confirmed by muscle biopsy.
The most common muscles sampled are the vastus lateralis and the gastronemius.
Muscle biopsy and Blood PCR is important.
EMG I am not sure.
Hope this helps you.
His milestones were normal. He walked when he was "supposed" to, etc. His muscles look fine. When we took him to the doctors the other day though, his Achilles reflex on the right side and his knee reflex on the left couldn't be found. The other reflexes were fine.
His posture when walking seems normal. His hips are rather high and seems lopsided at times, but after his back gets "cracked" it returns to normal. He does run and play although he seems to get tired quickly and stairs and long walks are a problem also.
When I was younger, I had many of the same symptoms, and went through the EMG, etc. It all turned out to be normal. I still have problems with tired/heavy muscles, etc, but have been diagnosed with Lupus, though I doubt that is what I have. He had an ANA drawn, but it is not back from the lab yet.
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