What can a brain MRI show?

A brain MRI (magnetic resonance imaging scan that produces detailed images of the brain) typically shows characteristic changes in the white matter (the signal-carrying nerve fibres of the brain). These changes are visible from around six months of age and are a helpful diagnostic clue. In most cases they do not cause problems with thinking or learning.

How is LAMA2-RD diagnosed? What genetic tests are used? Is a muscle biopsy always necessary? What can a muscle MRI show? How long does it usually take to receive a diagnosis? Which specialists are involved in the diagnosis? Can LAMA2-RD be misdiagnosed? Which other conditions can resemble LAMA2-RD? What do my genetic test results mean? What is a genetic variant or mutation? How can I obtain a second opinion?

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