Can LAMA2-RD be misdiagnosed?

Yes. Because it is rare and shares features with other neuromuscular diseases (conditions affecting nerves and muscles), misdiagnosis can happen, particularly in the past, before genetic testing became widely available. If your child has a diagnosis based only on clinical signs or a muscle biopsy, without confirmed genetic testing, it is worth asking your doctor about a performing genetic testing to confirm the diagnosis is accurate. If you are not sure where to start, contact us and we can help direct you.