Inheritance Patterns

Familial MND (FMND) affects 5% to 10% per cent of 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 MND Scotland 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.

Read more about the medical facts behind FMND.

Please consult your doctor for advice specific to your individual situation.

Updated Tuesday 25 Aug 2009