Brief Answer:
Really? What is the working diagnosis?

Detailed Answer:
Hello. My name is Dr. Dariush Saghafi and I am a neurologist in the XXXXXXX OH area.

Strictly based upon the information you've given me and nothing else I am surprised that your son is being sent for a biopsy of muscle. That is a serious thing to do to a young man who is an athlete. I think I'm missing something important here in your story.

Is this recommendation coming from a neurologist or your primary physician? What is the working diagnosis. CPK's that are elevated in athletes who are in training are not necessarily unusual but again, maybe there's more information that you've not included that would prompt someone to go for that type of testing.

They should've given you some type of presumptive diagnosis such as a particular neuromuscular disease, muscular dystrophy of some sort, or other pathological process before going for that test. Has he had EMG/NCV testing done already? Even that may've surprised me a bit but it make sense to get that done first before any biopsy.

Has he been losing excessive weight? Has he become clumsy or accident prone while racing? Is he just not very coordinated or losing his sharpness when it comes to muscle work and precision?

I agree that some of his complaints such as difficulty breathing are not necessarily normal but again, many young athletes have bronchial spasms or asthma so that could be explained.

I'll let you come back with more information before asking anything else.

If you feel this information has helped you please consider leaving some written feedback and a STAR RATING of this encounter if you would do me the favor of CLOSING THE CONSULT if you are done with questions and comments.

Otherwise, I look forward to answering any question from you at the following link:

http://doctor.healthcaremagic.com/Funnel?page=askDoctorDirectly&docId=68474

This query required 14 minutes to review, research, and document for envoy.

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Brief Answer:
Thank you for updated information

Detailed Answer:
Good morning again....and thanks for sending in those updates.....I suspected that there was a bit more information to have and you've provided some of those details.

I understand that the physical/rehab. doctor did an EMG on him but it would be more helpful more me to know what the actual conclusions were by the doctor as to saying that your son, "didn't fail drastically." I'd like to know the actual CONCLUSION. Has your son been seen by a neurologist yet? Specifically, a neuromuscular person. I think that should be done before getting a muscle/nerve biopsy which you really don't want to do if not necessary. If there is a metabolic myopathy then, we should be able to identify it with proper laboratory studies FIRST. In my opinion, one doesn't want to sacrifice any amount of nerve and muscle in a patient who is suffering from such problems. That should be intuitively obvious.

Sounds to me as if the doctor's hanging his hat on making the diagnosis based on the biopsy instead doing an exhaustive search for the metabolic problem. That's again, why my bias in these cases is to find a solid NEUROMUSCULAR person in the field of neurology as opposed to PM&R which is not to say any negative about the abilities of the doctor he's been seeing but neurologists simply have a different perspective on these sorts of situations and I believe (for obvious reasons) that our scope of trying to find the problem before going invasive is much wider than many other specialists tend to do.

You mention about low ferritin levels...but do you really mean to say he has "low normal" levels or truly LOW LOW levels. What do the rest of his iron studies show and are these low levels due to genetics or are they part of a larger syndromic picture or hasn't the doctor really gone that far in his discussions with you?

Hard to say whether intense exercise is doing damage to his muscles without the diagnosis being clear. There are certain types of muscle diseases and dysrophies which are clearly aggravated by exercise....but those are not based on lack of oxygenation or by low ferritin levels so much as they are by shear mechanical wear and tear on the muscles themselves which do not regenerate once they are brokine down. It doesn't sound like the case here since you say he's not losing weight and he's not clumsy.

When you say his body rejects the sport....can you tell me specifically how he places in races compared with his peers? Is he in the top 25% of racers in his events, middle 50%, or bottom 25%, bottom 10%? Such numbers will help me get a better objective feel for the amount of weakness you're talking about. Does he need a lot of recovery time after a meet or training? Does he suffer from fatigue during the day when he needs to be studying and is it beginning to show signs of interference with grades or else wise?

Is there any other sport, less strenuous perhaps, that he has tried pursuing but then, also not well at for similar reasons?

If you feel this information has helped you please consider leaving some written feedback and a STAR RATING of this encounter and also you would kindly consider CLOSING THE CONSULT if you are done with questions and comments. If not then, I am gladly standing by for more questions or responses to questions that I asked.

Otherwise, I look forward to answering any question from you at the following link:

http://doctor.healthcaremagic.com/Funnel?page=askDoctorDirectly&docId=68474

This query required 15 minutes to review, research, and document for envoy.

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