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Q. What are the confirmatory tests to diagnose muscular dystrophy?

Answered by
Dr. Hitesh Kumar
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Sep 15, 2022

Hello doctor,

I am 28 years old, with a height of 5.3 feet, and my weight is probably more than 70 kilograms. I have a physical problem. I got seriously ill at the age of six months due to pneumonia. Later on, I faced that my nervous system got very weak, and I could walk adequately, neither stand up after sitting on a chair alone, nor go upstairs. Hence, I request you kindly treat me so I can live everyday life.

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#

Hello,

Welcome to icliniq.com.

I understand your concern.

First, I would like to know your detailed history for making some conclusions:

1. Since what age have you started to have a problem?

2. What problem exactly you had with starting time?

3. As you mention, a weak nervous system- please tell me specifically. Did you have an imbalance in walking? A problem in getting up from a sitting position? Weakness in wearing footwear? Weakness in legs while walking? Impairment of sensation in any body part such as leg or arm?

4. At what age you started to stand (without support)?

5. At what age you started to walk unassisted?

6. At what age you started to run?

7. Have you had any urine control difficulty?

8. Is there any thinning of any limb (arm or leg)?

Also, if you could search previous medical documents, send them as a scanned file in the attachment. Then, revert to the details mentioned above to better understand your symptoms.

Thank you.

Hi doctor,

1. When I was 3 or 4 years then, I faced problems while walking. I can not walk straight.

2. At starting time, I walked with the support of my pants pocket. I can not walk straightly. I can send you videos of how I walk.

3. Yes, I have an imbalance while walking and standing. I can not even stand without any support. Generally, I walk with the help of a chair or wall. Yes. I have a problem getting up from a sitting position. - Yes. I have a weakness in footwear; I can not wear clothes alone.Yes. I have weaknesses while walking. At an early age, I felt if I got any obstruction in my way. I do not have any sensation impairment in my body part. I have a normal sensation in my body. I just have weakness in my waist and spine. Due to my physical problem, I can not do things by myself. Hence, my legs and arms are weak as well. My arms are a little thinner than usual.

4. I started to stand without support at 3 or 4 years old.

5. I started walking unassisted at 4 years of age.

6. I can not run.

7. I do not have any urine control difficulty. But for the last four years, I have been facing a little such problem.

8. No. There is no thining of leg and arms. Everything is normal. But I do not have strength in my legs and arms. The left hand and left leg are weaker than the other hand and leg. In addition, I would like to inform you that I tend to catch cold easily. In the winter season, I have many difficulties. On cold days, my palm and feet are constantly challenged and collapse. Also, if you want to take a syringe of blood, it is not available due to cold arms. I can send you videos of how I walk.

Thank you.

#

Hello,

Welcome back to icliniq.com.

The videos of walking may give me a better understanding. I suggest you, please send videos in the attachment at icliniq itself. As per your information, some further history required are:

1. Were you delivered on the expected delivery date? Or by Cesarean section.?

2. Did you cry immediately after birth, or it took some time?

3. Have you had any significant medical illness in infancy and neonatal?

4. How many siblings do you have? How many brothers and sisters? Does anyone else in the family have a similar problem?

5. How are you in your studies (compared to other people at your age)? Also, I need to clinically examine you for a better conclusion. Revert with the above information.

Kind regards.

Hi doctor,

I was born with normal delivery. I have one elder sister. No one in my family has such a problem, and I am very good at my studies. My parents said I was normal, just like another child when I was born.

#

Hello,

Welcome back to icliniq.com.

After watching your video and based on your information, It seems some muscle disorders may be present like muscular dystrophy. But I suggest you meet a neurologist in person to make a clinical examination feasible. I suggest a few tests:

1. Total serum CPK (creatine phosphokinase).

2. Serum LDH (lactate dehydrogenase).

3. NCV (nerve conduction velocity) and EMG (electromyography) on all four limbs.

4. MRI (magnetic resonance imaging) screening of the whole spine.

5. It May require muscle biopsy.

Also, let me know the below information:

Have you ever been able to run before? If yes, till what age could you run? At what age you started to have your problem? Along with this information, send the suggested test reports.

Thank you.

Kind regards.

Hi doctor,

I had never been able to run, and I started to have a problem at 4 years old.

#

Hi,

Welcome back to icliniq.com.

I understand your concern.

Do you have any problem with puffing your cheeks, forcefully closing your eyes, and lifting your head in a laying-down position? Is there any weakness in hand grip too?

Kind regards.

Hi doctor,

I only have a problem lifting my head in a laying down position, and I want to know whether muscular dystrophy is curable or not.

#

Hello,

Welcome back to icliniq.com.

Still diagnosis of "muscular dystrophy" is not confirmed. I suggest you get advised tests done. If test reports give a clue about muscular dystrophy, the following test may be a "muscle biopsy" to know the type of muscular dystrophy. By the way, among muscular dystrophies, one or two only have the role of some medicines, that also for a limited period. In other types, no pharmacological treatment works. In supportive care- physiotherapy and braces can be helpful. If contractures are formed, tendon transfer surgery can help improve the quality of life.

Kind regards.

Hi doctor,

The test may take some time to get reports. I will send you whenever I receive reports. This would be very helpful for me.

#

Hi,

Welcome back to icliniq.com.

You are always welcome. You can quickly get in touch via icliniq query any time and can send reports as an attachment.

I hope you find it helpful.

Kind regards.


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