Pelizaeus-Merzbacher disease
Inheritance patterns and prenatal diagnosis
Inheritance patterns
It is often inherited in an X-linked fashion, i.e. boys are affected and their female relatives, who are not themselves affected, may be carriers. The gene duplication can be detected by cytogenetic and molecular analysis in Regional Genetics Centres where counselling is also available.
Prenatal diagnosis
Prenatal diagnosis is available and has been carried out in a number of cases.
What are the causes?
| Is there support? ![]()