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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Experiencing Muscle Discomfort , Stiffness And Pain In Shoulders . What Could Be The Problem ?

I took my 10 yer old son to neurology fo a consult due to co some muscle discomfort stiffness and pain in his shoulders. they told me he is fine despite of not being able to get the knee jerk reflexes. They did say that the ankle reflexes were normal, but I did not really observe them myself as I watched. they did a CPK and told me to come back in one year. From what i know so far the CPK is 384 as the receptionist read on the report (I am waiting for a call back from the neurologist still). My son is somewhat awkward in his gross motor coordination like when laying supine with hands behind his head he needed to turn over on his side first in order to get up. he also doues not eat well, he is very skinny. he is very advanced academically and he is pleasant. His mom and dad sides of the family first degree and second degree relatives have diabetes and thyroid disease, no history of muscular problems except my mom and myself have c/o spine pain like radiculopathy. Please advise.
Thank you
Laura
Tue, 24 Dec 2013
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Anesthesiologist 's  Response
Hello,
I suspect that he is suffering from Muscular Dystrophy.
Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move.
People with Muscular Dystrophy have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. Because Muscular Dystrophy is genetic, people are born with the problem.
Muscular Dystrophy weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults.
He may be suffering from either Duchenne or Becker's muscular dystrophy.
Because are common and very common in boys.
In Beckers dystrophy , the symptoms appear later and is not severe than Duchenne's.
In addition to creatine kinase, he need following investigations.
1. Muscle biopsy - this involves taking a small sample of muscle under local anaesthetic. The sample is examined under the microscope and the muscle chemicals (proteins) may be tested.
2. Genetic analysis - this involves testing a person's DNA using a blood sample. It can detect many (not all) cases of Muscular Dystrophy.
3. An electromyogram (EMG) - this is a recording of the electrical activity in a muscle.
4. Muscle ultrasound is used to look for suspected Muscular Dystrophy.

There is no cure for Muscular Dystrophy, although there are treatments which can help. The treatment offered will depend on what type of Muscular Dystrophy your child have.
Physiotherapy, steroids and splints are available treatment options now.

Hope this helps.
Please write back for further queries.
Wishing you good health.
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Experiencing Muscle Discomfort , Stiffness And Pain In Shoulders . What Could Be The Problem ?

Hello, I suspect that he is suffering from Muscular Dystrophy. Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with Muscular Dystrophy have incorrect or missing information in their genes, which prevents them from making the proteins they need for healthy muscles. Because Muscular Dystrophy is genetic, people are born with the problem. Muscular Dystrophy weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults. He may be suffering from either Duchenne or Becker s muscular dystrophy. Because are common and very common in boys. In Beckers dystrophy , the symptoms appear later and is not severe than Duchenne s. In addition to creatine kinase, he need following investigations. 1. Muscle biopsy - this involves taking a small sample of muscle under local anaesthetic. The sample is examined under the microscope and the muscle chemicals (proteins) may be tested. 2. Genetic analysis - this involves testing a person s DNA using a blood sample. It can detect many (not all) cases of Muscular Dystrophy. 3. An electromyogram (EMG) - this is a recording of the electrical activity in a muscle. 4. Muscle ultrasound is used to look for suspected Muscular Dystrophy. There is no cure for Muscular Dystrophy, although there are treatments which can help. The treatment offered will depend on what type of Muscular Dystrophy your child have. Physiotherapy, steroids and splints are available treatment options now. Hope this helps. Please write back for further queries. Wishing you good health.