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A myMDteam Member asked a question 💭
April 8
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A myMDteam Member

It took a long time for me. Finally, after over a decade, different Doctors and a LOT of wrong guesses, I was given a genetic test. The doctor that ordered it told me, that he was sure I didn't have Muscular Dystrophy, because I: " Don't present like a normal Muscular Dystrophy patient"
I had to argue to get the test ordered. Turns out I have Myotonic Muscular Dystrophy, type 2
He just didn't know what he was talking about. Needless to say I have a different Neurologist now, that understand this disease.

April 9
A myMDteam Member

I had a muscle biopsy when I was 10 years old back in 1965. I believe nowadays they can diagnose through your DNA.

May 29
myMDteam

How is muscular dystrophy typically diagnosed?

Muscular dystrophy is usually diagnosed through a combination of tests that help confirm the condition and identify the specific type. The process typically begins when someone notices symptoms like muscle weakness or difficulty with movement.

Doctors start with a physical exam Show Full Answer

How is muscular dystrophy typically diagnosed?

Muscular dystrophy is usually diagnosed through a combination of tests that help confirm the condition and identify the specific type. The process typically begins when someone notices symptoms like muscle weakness or difficulty with movement.

Doctors start with a physical exam to check overall health, coordination, reflexes, and how you walk. From there, several diagnostic tests may be used:

Common diagnostic tests include:
* Blood tests to check for elevated creatine kinase (CK), an enzyme that's higher when muscles are damaged
* Genetic testing to identify specific gene mutations that cause muscular dystrophy
* Electromyography (EMG) to measure how well muscles use electrical signals
* Muscle biopsy to examine muscle tissue under a microscope
* Heart function tests like ECG or echocardiogram, since some types affect the heart
* Imaging tests like MRI or ultrasound to look for muscle damage

Genetic testing has become increasingly important and can confirm the diagnosis, identify the specific type of muscular dystrophy, and help guide treatment options. It's often done even when other tests are performed.

The earlier muscular dystrophy is diagnosed, the sooner treatment can begin to help manage symptoms and improve quality of life.

April 8

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