Can carriers have symptoms?

Carriers of a single changed LAMA2 gene copy usually have no symptoms of LAMA2-RD. Because they carry only one mutated copy of the gene rather than two, they are healthy, and many carriers have no idea they carry the changed gene until a child is diagnosed. Specific questions about carrier status should be discussed with a genetic specialist or genetic counsellor.

What does autosomal recessive inheritance mean? Is prenatal testing available for LAMA2-RD? Is preimplantation genetic testing possible? Should family members be tested? What genetic counselling options are available? Can LAMA2-RD be detected before birth? Can future children be tested during pregnancy? What reproductive options are available? How can I find a genetic counsellor?

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