Motor neurone disease Causes

Motor neurone disease Causes - cause some form of MND...

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Motor neurone disease Causes About 90% of cases of MND are sporadic, meaning the patient has no familial history of MND. Genetic factors are suspected to be important in determining an individual's susceptibility to the disease, and there is some evidence to suggest that onset may be "triggered" by an as yet unknown environmental factor. The remaining 10% of cases have a "familial" element, defined either by a family history of MND or by testing positive for a known genetic mutation associated with the condition. The following genes have been linked to MND:- Superoxide Dismutase 1 (SOD1) Amyotrophic Lateral Sclerosis 2 (ALS2) NEFH SETX VAPB Of these SOD1 mutations account for 20% of familial cases of MND. The SOD1 gene codes for the enzyme Superoxide Dismutase, a free radical scavenger which reduces the oxidative stress in cells throughout the body. So far over 100 different mutations in the SOD1 gene have been found, all of which
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Unformatted text preview: cause some form of MND. Epidemiology The incidence of MND is approximately 2 in 100,000, while the prevalence is approximately 6 in 100,000. The incidence rises with age and MND is rare in patients under the age of 50. The peak incidence is around 65. Men are affected more than women. Diagnosis The diagnosis of MND is a clinical one, established by a neurologist on the basis of history and neurological examination. There is no diagnostic test for MND. Investigations such as blood tests, nerve conduction studies, electromyography, MRI and occasionally genetic testing may be required to rule out other conditions which can mimic MND. Having excluded other causes, a relatively rapid progression of symptoms is a strong diagnostic factor. Although an individual's progression may sometimes slow or plateau, it will not improve....
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