Muscle Biopsy

In rare cases when genetic or electromyography tests are not successful in delivering a diagnosis, doctors will need to take a biopsy of one of the muscles to determine if the patient has SMA. This involves taking a small piece of muscle, usually from the thigh, and testing it to see if it has the characteristics found in SMA. This test can distinguish between the different types of SMA as muscle fibers in type 1 SMA patients will look different to those of types 2 and 3. Find out more about muscle biopsies here. 

Find out how muscles are affected by SMA and dystonia. 

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