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Date: 5 April 2020
The nervous system consists of central (brain and spinal cord) and peripheral (spinal roots, nerve, nerve/muscle junction, muscle) elements. Many disorders of the nervous system have a genetic component even when there is no clear inheritance pattern in a particular family. In other cases, the condition is passed down from one generation to the next or may affect multiple siblings.
The Neurogenetic clinic has been set up to facilitate diagnosis, counselling and management of these rare disorders. Often patients will attend the clinic having already had their primary investigations completed elsewhere and the clinicians will have reviewed all this information prior to their appointment. In addition, other blood tests, including new genetic technologies and scans may be necessary to make a definitive diagnosis. The clinic is run by Dr Nick Davies (Consultant Neurologist) and Dr Mary O’Driscoll (Consultant Clinical Geneticist) together with a genetic counsellor and neurophysiotherapists.
Examples of disorders seen in the clinic include cerebellar ataxias (loss of coordination), leucodystrophies (diseases of brain white matter), spastic paraparesis (stiff/weak legs) and conditions affecting multiple organs.
One major advantage of this service is that patients previously undiagnosed through serial single gene or genetic panel screening can be put forward for the 100K Genome project in Birmingham, in which all of their genetic information (approximately 20,000 genes) can be analysed.
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