rarerelated tag: Diagnosis

Looking After Yourself if you’re an Adult Who Has Had a Recent Diagnosis of SMA

SMA Type 4, the more common form of adult onset SMA, is most often diagnosed in early adulthood. There are other forms of adult onset SMA with different causes. The impact of adult onset SMA varies greatly between individuals.

Getting a diagnosis of SMA Type 4 or other form of adult onset SMA can take time as the symptoms of SMA can seem similar to the symptoms of other neuromuscular conditions. Waiting for appointments, test results and a diagnosis can be very stressful. If you’re concerned about your symptoms, have had some tests but have not been referred to a consultant neurologist, you might want to request a referral from your General Practitioner (GP).

Possible tests are:

·         An electromyogram (EMG) which shows if the nerve supply is diminished

·         A muscle biopsy which shows if there is any reduction in muscle cells

·         An MRI (Magnetic Resonance Imaging) scan which produces detailed images of the inside of the body

·         A CT (Computerised Tomography) scan which is another way of producing detailed images of the inside of the body

·         A range of blood tests, including a blood sample for DNA testing