Muscular Dystrophy Association Inc, 36 - 38 Henley Beach Road,
Mile End SA 5031
Postal address: GPO Box 414, Adelaide SA 5001| Email:
info@mdasa.org.au | Tel: 08 8234 5266 | Fax: 08 8234 5866
Diagnosis
A diagnosis of muscular dystrophy has genetic implications for family members. It is therefore important that the diagnosis be made as soon as possible, so that genetic advice can be offered. A suspicion of any type of muscular dystrophy may be investigated by:
- Reviewing family history
- A general physical examination
- Blood tests
- Electromyography (Diagnostic test which records the electrical activity of muscles at rest and during contraction)
- Nerve conduction studies (Measure the speed of transmission of electrical messages along the nerve)
- And muscle biopsy (A small piece of muscle is removed for examination
under a microscope and sometimes also for chemical examination)
It is now possible to detect the abnormal gene for a number of muscular dystrophies and other inherited muscle diseases. This can be done by examining the DNA extracted from a blood sample. In the future it is expected that this form of confirmation of the diagnosis will be possible for each of the muscular dystrophies, allowing more precise genetic counselling.
