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Motor Neurone disease
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Ninety to ninety-five per cent of MND cases are sporadic with no family history of the disease. Familial MND (FMND) affects five per cent of MND cases. Clinically, sporadic and familial forms of MND are indistinguishable.
Approximately twenty per cent of FMND patients have an autosomal dominant mutation in the copper zinc superoxide dismutase 1 (SOD1) gene on chromosome 21. Over one hundred different SOD1 mutations have been reported to date; the presence of which may have significant differences in age of onset and disease prognosis.
Following the discovery of the SOD1 gene mutation in 1993, other genes that cause FMND have been discovered. As these mutations occur in a very small percentage of people with the familial form of MND, these discoveries are more significant for research than for clinical diagnosis.
The care and support required by someone with FMND is no different to a person who has the sporadic form of the disease and the MND Association has a range of services available to help. However, for the person affected and the extended family, increased emotional support and an understanding of the genetics involved may be required. Referral to a neurologist who understands the particular needs of people with FMND may be helpful, the GP or current neurologist can arrange this.
Prenatal diagnosis
None.
How is it treated?
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