Neil Gordon

..The differential diagnosis will be from other forms of neuronal degeneration and disorders of mitochondrial function. There is no specific treatment, which must await further research into causes...

..The cognitive defects found in children with cerebellar ataxia supports its role in learning, and so does the study of music...

..Discovering more about the causes of mutism due to organic causes may well depend on studies using such techniques as magnetic resonance imaging and single photon emission tomography...

..It is equally important to stress the importance of prevention, although more research is needed on the best method to use, which is both effective and affordable...

..Immune therapy occupies a special role in selected patients, There is still a need for research into the links between these conditions...

..The demonstration of organic acids in the urine and the results of muscle and liver biopsies confirm the diagnosis, and treatment with a special diet and supplementation with carnitine and riboflavine is effective...

..The treatment of affected children needs input from a number of specialists, and their contributions are discussed...

..This results in improvement of many of the symptoms, especially of the epileptic seizures and the abnormal movements. It is justifiable to consider this condition in any patient with unexplained learning disorders...

..In view of this response to treatment in CFD and allied conditions, a case can be made for screening the CSF of patients with neurological disorders of unknown origin...

..Symptomatic treatment may well be needed for control of seizures, abnormal behaviour and other disorders; and special educational needs must be served...

..Other methods of treatment than signing, such as cochlear implants may be increasingly used in the future, but it seems likely that sign language will continue to be a dominant feature in the deaf culture...

..These include neuropathies, myopathies such as Duchenne muscular dystrophy and myotonia, and disorders of the neuromuscular junction...

..The hope for the future is that now the cause has been found it will be possible to use methods such as antioxidative therapy and gene induction procedures...

..Liver transplant can be considered when symptoms are life-threatening, although there may be severe complications.Gene replacement therapy is the hope of the future...

..It has also been suggested that antioxidant thioctic acid may be of benefit. Substances such as caffeine and phenobarbitone should be avoided as they inhibit glucose transport...

..Rosenthal fibres seem to be the result of the condition, although they may be related to the aetiology. There is no specific treatment...

..If this does not heal with bedrest, an epidural blood patch or a percutaneous injection of fibrin glue may be needed. More information is required on long-term follow-up...

..The genetics and pathogenesis of the condition are discussed. The diagnosis will depend on the symptoms raising suspicions and the exclusion of other disorders, especially by genetic studies...