Dr. Mark Tarnopolsky: My name is Mark Tarnopolsky. I am the director of the Neuromuscular and Neurometabolic Clinic at McMaster University. We see about 2,000 patients a year who have either muscle, nerve or neurometabolic disorders, and we do everything from diagnoses to treatment and genetic testing.
Chapter 1: symptom assessment
Dr. Mark Tarnopolsky: Hello Erin, my name is Mark Tarnopolsky. I am a neuromuscular specialist and you were referred to me from your doctor because you have been having some weakness. Is that correct?
Patient: Yes, that is right.
Dr. Mark Tarnopolsky: How long has this weakness been going on?
Patient: About a year and a half, two years.
Dr. Mark Tarnopolsky: How do you notice that? What sort of things are you having difficulty with?
Patient: It really started with me having a hard time getting up when I was on the ground playing with my kids, and now I find it a bit more difficult to get up from a chair or climb stairs.
Dr. Mark Tarnopolsky: Stairs too, it looks like your legs have been affected. What about the upper extremities, any difficulties working around the house with your arms?
Patient: I do not notice so much. Sometimes when I try to lift something up on a shelf, I have a hard time, but I notice it more in my legs than in my arms.
Dr. Mark Tarnopolsky: Right. Now, in terms of what we call the proximal and distal muscles, with your hands, that is a distal muscle. Any weakness at all gripping things?
Patient: Never.
Dr. Mark Tarnopolsky: Nothing like that.
Patient: No, my hands are really nice and strong.
Dr. Mark Tarnopolsky: They do not lock up on you, they do not get stuck or anything like that?
Patient: No, they have never done that.
Dr. Mark Tarnopolsky: No, okay. In your legs, talking about your feet, which is a distal muscle, any issues at all with it slapping on the ground or stumbling on the toe?
Patient: No, I have never noticed that before.
Dr. Mark Tarnopolsky: You have not. It is really just getting up from the ground and climbing stairs.
Patient: Yes.
Dr. Mark Tarnopolsky: When you go up and down the stairs do you now find that you have to use the railing?
Patient: I cannot get up the stairs if I do not use the railing.
Dr. Mark Tarnopolsky: Both up and down you have to pull yourself up?
Patient: Yeah, going up is harder. Going down, I can do it without the railing, but going up I cannot really do without the railing.
Dr. Mark Tarnopolsky: If you are, for example, doing laundry or carrying a basket, there is no way you could carry the basket up or downstairs?
Patient: No, I have to get my husband to do that now.
Dr. Mark Tarnopolsky: Okay. With these activities, do your muscles cramp while you are doing the activity?
Patient: No, they have never cramped before.
Dr. Mark Tarnopolsky: Is there any pain at all associated with this?
Patient: No pain.
Dr. Mark Tarnopolsky: So you even at rest or with exercise there is really no pain with this.
Patient: No.
Dr. Mark Tarnopolsky: Okay. When you were younger, for example, as a teenager, could you do sports or any activities like that?
Patient: Yeah, I could.
Dr. Mark Tarnopolsky: Did you play on any teams?
Patient: I played soccer.
Dr. Mark Tarnopolsky: Right. Back then you had no problems with dark urine, muscle cramps, anything like that?
Patient: No, never.
Dr. Mark Tarnopolsky: This weakness really has just been more apparent to you for the last two years or so.
Patient: Yes, that is right.
Dr. Mark Tarnopolsky: What about others, your husband or anyone else notice this or ask you to see a doctor?
Patient: People sometimes notice that I walk a little bit funny, but it is normally my family and my friends that notice it, sometimes other people do not really notice it.
Dr. Mark Tarnopolsky: Right. It is becoming a little bit more apparent to people that you have this problem with your walking.
Patient: Yeah, that is right.
Dr. Mark Tarnopolsky: Right, okay. Good. What about things for example like swallowing? Are you having any issues at all with that?
Patient: No problem swallowing.
Dr. Mark Tarnopolsky: None whatsoever?
Patient: No.
Dr. Mark Tarnopolsky: Your chewing is not getting fatigued?
Patient: No.
Dr. Mark Tarnopolsky: No. Your jaws are not tiring or anything?
Patient: No, never.
Dr. Mark Tarnopolsky: Your voice has not changed?
Patient: No, it has not changed.
Dr. Mark Tarnopolsky: Right. No problems with double vision?
Patient: No, I have never had double vision.
Dr. Mark Tarnopolsky: Yeah, and your eyes do not get droopy at the end of the day?
Patient: No.
Dr. Mark Tarnopolsky: No hearing loss?
Patient: No.
Dr. Mark Tarnopolsky: Okay. What about your heart, any palpitations or chest pains?
Patient: No.
Dr. Mark Tarnopolsky: Right, but when you say that you are weak, is that weakness there first thing in the morning, at the end of the day?
Patient: The weakness is there all the time, but I sometimes get really tired throughout the day, to where at the end of the night I am really, really bad.
Dr. Mark Tarnopolsky: Right. Do you feel short of breath as well with all of this?
Patient: Yes.
Dr. Mark Tarnopolsky: Along the lines with that, do you wake up in the morning with a headache or any issues like that?
Patient: I usually wake up feeling kind of cloudy with a headache, my husband says it takes me a really long time to get out of bed in the morning and that I sometimes do not make sense.
Dr. Mark Tarnopolsky: Oh really? What about at night, do you feel short of breath when you are lying down like does that affect you at all?
Patient: I cannot lie down at all.
Dr. Mark Tarnopolsky: How do you go to sleep then?
Patient: Well, I find I have to sleep propped up on a few pillows or on my side, but if I lie down flat, I get really panicky and I have a hard time breathing.
Dr. Mark Tarnopolsky: Okay. What about your bowels and bladder, any issues at all with that?
Patient: No, I have never had any problems that way.
Dr. Mark Tarnopolsky: Right. You have had no numbness or tingling in your feet?
Patient: No, never.
Chapter 2: medical and family history
Dr. Mark Tarnopolsky: Okay. Thinking about your past medical history, have you had any surgeries, any anesthetic reactions, anything that you can think of?
Patient: No, never.
Dr. Mark Tarnopolsky: Right. You never have been put on medications for any high blood pressure, high cholesterol?
Patient: No.
Dr. Mark Tarnopolsky: Right. What medications are you on right now?
Patient: I currently take Vitamin D and a multivitamin.
Dr. Mark Tarnopolsky: You have never been prescribed medications for cholesterol, for example, like a statin, I do not know if you have heard that term.
Patient: No, I do not know what that is.
Dr. Mark Tarnopolsky: Nothing like that. Okay, good. No other supplements or anything else that you have taken over-the-counter or anything other than the multivitamin?
Patient: No.
Dr. Mark Tarnopolsky: Okay. Your allergies, any issues at all with allergies to medications?
Patient: No, I have never had any allergies.
Dr. Mark Tarnopolsky: Nothing there, right. You do not smoke or drink?
Patient: No, never.
Dr. Mark Tarnopolsky: What is your job?
Patient: I work as a teacher.
Dr. Mark Tarnopolsky: Now, do you think that this weakness is impairing your ability to function as a teacher?
Patient: Well, I find it hard to keep up with the kids now, and if it is an emergency, I find it hard to get out of my desk really quickly, but the kids have not really noticed it too much yet.
Dr. Mark Tarnopolsky: It really has not impacted your job at this point?
Patient: No, not too much.
Dr. Mark Tarnopolsky: Right. You are not worried about losing your job or having to get accommodations at this point?
Patient: No.
Dr. Mark Tarnopolsky: Okay. What about the family history, do you have any children?
Patient: Yes, I have two.
Dr. Mark Tarnopolsky: Boy or girl?
Patient: I have an older boy and younger girl.
Dr. Mark Tarnopolsky: They are healthy?
Patient: Healthy and active, yeah.
Dr. Mark Tarnopolsky: Right. What about brothers and sisters?
Patient: I have an older sister.
Dr. Mark Tarnopolsky: She is healthy?
Patient: She is healthy.
Dr. Mark Tarnopolsky: Does she have any kids?
Patient: She does.
Dr. Mark Tarnopolsky: Right. Any issues at all with her kids?
Patient: No, they have no issues.
Dr. Mark Tarnopolsky: Right. Your mom and dad, are they healthy?
Patient: They are.
Dr. Mark Tarnopolsky: Right. They are not taking medications for diabetes or cholesterol or anything like that?
Patient: No, they are not on any medications.
Dr. Mark Tarnopolsky: Right. Nobody in your extended family has had any problems with pacemakers, enlargement of the heart, muscle weakness?
Patient: No, not that I know of. I have never heard that before.
Dr. Mark Tarnopolsky: Right. It sounds like a strange question, but your parents are not related by blood, are they?
Patient: No.
Dr. Mark Tarnopolsky: Okay. Good.
Chapter 3: patient questions
Dr. Mark Tarnopolsky: Are there any questions that I have not brought up that you think are important?
Patient: Am I going to get worse?
Dr. Mark Tarnopolsky: Well, first we have to do an examination, and we will take a look at some of the blood work. Your family doctor had sent over some blood work that they had done. Things look, you know, generally normal. There is a muscle enzyme called a CK which is up a little bit. The normal should be 200, yours is about 640. So it is not crazy elevated, but it could mean that there is something going on with the muscles. Our examination and some tests will help us to figure out what that is. Now that CK number muscle enzymes, have you ever had that done that you recall in the past or has anyone ever said that has been up?
Patient: No, this is the first time I have ever had it tested. My family doctor did call me at home to let me know that the results were a bit abnormal, but I did not really know what it meant.
Dr. Mark Tarnopolsky: Yeah. I mean the CK can be up for a variety of reasons. Sometimes if we exercise too aggressively, it can stay up sometimes as long as a week afterwards. Did you do any abnormal workouts, do anything different for a few days before this measurement?
Patient: I walk, but I have a really hard time exercising because I get really short of breath very fast, and my muscles feel really weak.
Dr. Mark Tarnopolsky: Okay. It is probably not exercise and we will do our examination and then we will order some other tests to try and sort this out for you as quick as possible.
Patient: Okay.
Dr. Mark Tarnopolsky: Okay, thanks.