Từ điển y khoa

Bệnh cơ bẩm sinh là một thuật ngữ dùng để chỉ những rối loạn của cơ xuất hiện khi mới sinh. Theo định nghĩa này thì bệnh cơ bẩm sinh có thể bao gồm hàng trăm hội chứng và tình trạng rối loạn thần kinh cơ khác nhau. Bệnh cơ bẩm sinh sẽ không cho thấy xuất hiện những bằng chứng của quá trình loạn dưỡng tiến triển (chết cơ) hoặc tình trạng viêm, nhưng thay vào đó là những thay đổi vi thể đặc trưng kèm theo giảm khả năng co cơ. Thông thường, bệnh cơ bẩm sinh gây ra mất sự rắn chắc của cơ và làm yếu cơ ở trẻ sơ sinh và làm chậm vận động, chẳng hạn như biết đi,trong giai đoạn sau này.

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