What Is Camurati Engelmann Disease?

Posted on Tue, 27 Sep 2016

Medically reviewed by Ask A Doctor - 24x7 Medical Review Team

Tue, 27 Sep 2016 Answered on

Wed, 19 Oct 2016 Last reviewed on

Question : Hi.... do you know anything about the disease Camurati Engellman Disease?

Answered by Dr. Prof. Kunal Saha (2 hours later)

Brief Answer:
Yes

Detailed Answer:
Thanks for asking on HealthcareMagic.

Yes, I am aware of the disease. It is a genetic disorder inherited in an autosomal dominant manner and is characterized by proximal muscle weakness, limb pain and waddling gait. Radiographic investigtion can reveal various findings. Molecular genetic testing helps in confirmation.

The following links should be helpful for you:
https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease
http://www.ncbi.nlm.nih.gov/books/NBK1156/

Let me know if you have any further queries and I would gladly help.

Regards

Above answer was peer-reviewed by : Dr. Veerisetty Shyamkumar

Follow up: Dr. Prof. Kunal Saha (13 hours later)

Hi
I am going to my general doc and also a neurologist but no one seems to know how to treat me and I am having a hard time finding a doctor., my hearing and vision are changing, because I have it in my skull

Answered by Dr. Prof. Kunal Saha (4 hours later)

Brief Answer:
Please provide the details of your problems.

Detailed Answer:
I would request you to detail out on the problems that you have and upload the investigations that have been done related to the same. I would try to guide you accordingly.

I would await your response.

Regards

Note: For more detailed guidance, please consult an Internal Medicine Specialist, with your latest reports. Click here..

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar