{"id":382,"date":"2017-01-24T13:59:31","date_gmt":"2017-01-24T10:59:31","guid":{"rendered":"http:\/\/werathah.com\/birth-defects\/?p=382"},"modified":"2026-03-30T17:11:54","modified_gmt":"2026-03-30T14:11:54","slug":"sma","status":"publish","type":"post","link":"https:\/\/werathah.com\/birth-defects\/genetic-disorders\/sma\/","title":{"rendered":"\u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a"},"content":{"rendered":"

\u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a<\/strong> <\/span><\/h1>\n

Spinal Muscular Atrophy<\/strong><\/h3>\n

\u0645\u0627 \u0647\u0648 \u0645\u0631\u0636 \u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a<\/b><\/span><\/h2>\n

\"\u0627\u0646\u0641\u0648\u062c\u0631\u0627\u0641\u064a\u0643\u062f\u0639\u0648\u0646\u0627 \u0646\u0648\u0636\u062d \u0628\u0639\u0636 \u0627\u0644\u0634\u064a\u0621 \u0639\u0646 \u062a\u0633\u0645\u064a\u0629 \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636.\u0641\u0627\u0635\u0644 \u0643\u0644\u0645\u0629 “\u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a” (\u0623\u0648 \u0627\u0644\u0641\u0642\u0631\u064a) \u0623\u062e\u0630\u062a \u062a\u0633\u0645\u064a\u062a\u0647\u0627 \u0645\u0646 \u0625\u0635\u0627\u0628\u0629 \u0627\u0644\u0645\u0631\u0636 \u0627\u0644\u0623\u0639\u0635\u0627\u0628 \u0627\u0644\u062a\u064a \u062a\u0638\u0647\u0631 \u0645\u0646 \u0627\u0644\u062d\u0628\u0644 \u0627\u0644\u0634\u0648\u0643\u064a \u0627\u0644\u0645\u0648\u062c\u0648\u062f \u0641\u064a \u0627\u0644\u0639\u0645\u0648\u062f \u0627\u0644\u0641\u0642\u0631\u064a. \u0648 \u064a\u0638\u0647\u0631 \u0639\u0644\u0649 \u0634\u0643\u0644 \u0636\u0645\u0648\u0631 \u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0645\u0639 \u0627\u0631\u062a\u062e\u0627\u0621 \u0634\u062f\u064a\u062f \u0641\u064a \u0627\u0644\u0639\u0636\u0644\u0627\u062a.\u0648 \u064a\u0637\u0644\u0642 \u0639\u0644\u064a\u0647 \u0628\u0627\u0644\u0644\u063a\u0629 \u0627\u0644\u0625\u0646\u062c\u0644\u064a\u0632\u064a\u0629 (Spinal Muscular Atrophy) \u0648 \u064a\u062e\u062a\u0635\u0631 \u0628\u0627\u0644\u062d\u0631\u0648\u0641 \u0627\u0644\u0623\u0648\u0644\u0649 \u0644\u0643\u0644 \u0643\u0644\u0645\u0629(SMA) \u0645\u0631\u0636 \u0625\u0633 \u0625\u0645 \u0623\u064a.<\/p>\n

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\u0623\u064a\u0636\u0627 \u0645\u0631\u0636 \u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a ( \u0625\u0633 \u0625\u0645 \u0625\u064a\u0647)\u00a0 \u064a\u062c\u0639\u0644 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0641\u064a \u0623\u062c\u0633\u0627\u0645\u00a0 \u0627\u0644\u0645\u0635\u0627\u0628\u064a\u0646 \u0623\u0636\u0639\u0641 \u0648 \u0644\u0627 \u064a\u0645\u0643\u0646 \u0623\u0646 \u064a\u062a\u062d\u0643\u0651\u0645\u0648\u0627 \u0641\u064a\u0647\u0645.\u0648\u0647\u0630\u0627 \u0623\u062d\u064a\u0627\u0646\u064b\u0627 \u064a\u0639\u0646\u064a \u0623\u0646 \u0644\u062f\u0649 \u0627\u0644\u0623\u0637\u0641\u0627\u0644 \u0645\u0639 \u0645\u0631\u0636 (\u0625\u0633 \u0625\u0645 \u0625\u064a\u0647) \u0645\u062a\u0627\u0639\u0628 \u062a\u062a\u0646\u0641\u0651\u0633 \u0648 \u0645\u0634\u0627\u0643\u0644 \u0641\u064a \u0627\u0644\u0628\u0644\u0639.<\/p>\n

\u0627\u0644\u0623\u0633\u0628\u0627\u0628<\/b><\/span><\/h2>\n

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<\/b>\u0623\u0646\u0648\u0627\u0639 \u0648 \u062a\u0642\u0633\u0645\u0627\u062a \u0627\u0644\u0645\u0631\u0636<\/b><\/span><\/h2>\n

\u0647\u0646\u0627\u0643 \u0639\u062f\u0629 \u062a\u0642\u0633\u064a\u0645\u0627\u062a \u0644\u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636. \u0648\u0644\u0643\u0646 \u0645\u0646 \u0627\u0634\u0647\u0631 \u062a\u0642\u0633\u064a\u0645\u0627\u062a\u0647 \u0647\u0648 \u062a\u0642\u0633\u064a\u0645\u0647 \u062d\u0633\u0628 \u0634\u062f\u0629 \u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0625\u0644\u0649 \u062b\u0644\u0627\u062b \u0623\u0646\u0648\u0627\u0639 \u0646\u0648\u0639 \u0634\u062f\u064a\u062f\u00a0 \u0648 \u0645\u062a\u0648\u0633\u0637 \u0648 \u062e\u0641\u064a\u0641 \u0648 \u064a\u0636\u0627\u0641 \u0625\u0644\u064a\u0647\u0627 \u0646\u0648\u0639 \u0631\u0627\u0628\u0639 \u064a\u0633\u0645\u0649 \u0646\u0648\u0639 \u0627\u0644\u0643\u0628\u0627\u0631. \u0648 \u0647\u0646\u0627\u0643 \u0645\u0646 \u064a\u0636\u064a\u0641 \u0646\u0648\u0639\u064a\u0646 \u0625\u0636\u0627\u0641\u064a\u064a\u0646 \u0627\u0634\u062f \u0645\u0646 \u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644 \u062d\u064a\u062b \u064a\u0648\u0644\u062f \u0627\u0644\u0637\u0641\u0644 \u0648\u0644\u062f\u064a\u0647 \u0627\u0646\u0643\u0645\u0627\u0634 \u0641\u064a \u0627\u0644\u0645\u0641\u0627\u0635\u0644 \u0645\u0639 \u062a\u0623\u062b\u064a\u0631\u0647 \u0639\u0644\u0649 \u0645\u0644\u0627\u0645\u062d \u0627\u0644\u0648\u062c\u0647 \u0648 \u0627\u0644\u0639\u064a\u0646\u064a\u0646 \u0623\u0648 \u0628\u062f\u0648\u0646.\u0648 \u0647\u0630\u0647 \u0627\u0644\u062a\u0642\u0633\u064a\u0645\u0627\u062a \u0628\u0634\u0643\u0644 \u0639\u0627\u0645 \u064a\u0639\u062a\u0645\u062f \u0639\u0644\u0649 \u0634\u062f\u0629 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0648 \u0648\u0642\u062a \u0638\u0647\u0648\u0631\u0647\u0627.<\/p>\n

\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644( \u0634\u062f\u064a\u062f)<\/strong><\/span><\/p>\n

\u0648 \u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u064a\u0633\u0645\u0649 \u0623\u064a\u0636\u0627 \u0645\u0631\u0636 \u0648\u064a\u0631\u062f\u0646\u064a\u062c-\u0647\u0648\u0641\u0645\u0627\u0646 Werdnig-Hoffmann Disease . \u062d\u064a\u062b \u0623\u0646 \u0627\u0644\u0637\u0628\u064a\u0628\u064a\u0646 \u0641\u064a \u0639\u0627\u0645 18.. \u0647\u0645\u0627 \u0623\u0648\u0644 \u0645\u0646 \u0623\u0634\u0627\u0631 \u0625\u0644\u0649 \u0648\u062c\u0648\u062f \u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636 \u0648 \u0633\u0645\u064a \u0627\u0644\u0645\u0631\u0636 \u0628\u0627\u0633\u0645\u0647\u0645.<\/p>\n

\u0648 \u062a\u0638\u0647\u0631 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0641\u064a \u0627\u0644\u0639\u0627\u062f\u0629 \u062e\u0644\u0627\u0644 \u0627\u0644\u0623\u0634\u0647\u0631 \u0627\u0644\u0633\u062a\u0629 \u0627\u0644\u0623\u0648\u0644\u0649 \u0645\u0646 \u0627\u0644\u0639\u0645\u0631 \u0645\u0639 \u0623\u0646\u00a0 \u063a\u0627\u0644\u0628\u064a\u0651\u0629 \u0644\u0644\u062d\u0627\u0644\u0627\u062a \u062a\u0638\u0647\u0631 \u0627\u0644\u0639\u0644\u0627\u0645\u0627\u062a \u0642\u0628\u0644 3 \u0623\u0634\u0647\u0631 \u0645\u0646 \u0627\u0644\u0639\u0645\u0631 .\u0643\u0645\u0627 \u0642\u062f \u062a\u0644\u0627\u062d\u0638 \u0627\"clip_image004\"<\/a>\u0644\u0623\u0645 \u062e\u0644\u0627\u0644 \u0627\u0644\u062d\u0645\u0644 \u0642\u0644\u0647 \u062d\u0631\u0643\u0629 \u0627\u0644\u062c\u0646\u064a\u0646 \u0641\u064a \u0628\u0637\u0646\u0647\u0627 \u062e\u0627\u0635\u0629\u00a0 \u0641\u064a \u0627\u0644\u0623\u0634\u0647\u0631 \u0627\u0644\u0623\u062e\u064a\u0631\u0629 \u0645\u0646 \u0644\u0644\u062d\u0645\u0644.<\/p>\n

\u0648 \u062a\u0628\u062f\u0623 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0628\u0645\u0644\u0627\u062d\u0638\u0629 \u0627\u0644\u0623\u0647\u0644 \u0644\u0648\u062c\u0648\u062f \u0627\u0631\u062a\u062e\u0627\u0621 \u0641\u064a \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0645\u0639 \u0636\u0639\u0641 \u0641\u064a \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u062e\u0627\u0635\u0629 \u0627\u0644\u0623\u0637\u0631\u0627\u0641 \u0648 \u0627\u0644\u0631\u0642\u0628\u0629 \u0645\u0639\u00a0 \u0642\u0644\u0647\u00a0 \u0641\u064a \u0627\u0644\u062d\u0631\u0643\u0629. \u0648 \u0647\u0630\u0627 \u0627\u0644\u0627\u0631\u062a\u062e\u0627\u0621 \u0648 \u0627\u0644\u0636\u0639\u0641 \u064a\u0632\u062f\u0627\u062f \u0645\u0639 \u0645\u0636\u064a \u0627\u0644\u0648\u0642\u062a.<\/p>\n

\u0648 \u0627\u0644\u0637\u0641\u0644 \u0627\u0644\u0645\u0635\u0627\u0628 \u0628\u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u064a\u0639\u062a\u0645\u062f \u0627\u0639\u062a\u0645\u0627\u062f \u0643\u0644\u064a \u0639\u0644\u0649 \u0627\u0644\u063a\u064a\u0631 \u0641\u0647\u0648 \u063a\u064a\u0631 \u0642\u0627\u062f\u0631 \u0639\u0644\u0649 \u0631\u0641\u0639 \u0631\u0623\u0633\u0647 \u0648\u0644\u0627 \u0639\u0644\u0649 \u0627\u0644\u062c\u0644\u0648\u0633 .\u0643\u0645\u0627 \u0642\u062f \u062a\u0636\u0639\u0641 \u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0628\u0644\u0639\u00a0 \u0648 \u0627\u0644\u0645\u0635 \u0641\u062a\u0638\u0647\u0631 \u0645\u0634\u0627\u0643\u0644 \u0641\u064a \u0627\u0644\u062a\u063a\u0630\u064a\u0629 \u0648\u0627\u0644\u0628\u0644\u0639 \u0648 \u062a\u0643\u062b\u0631 \u0639\u0645\u0644\u064a\u0627\u062a \u062f\u062e\u0648\u0644 \u0627\u0644\u0637\u0639\u0627\u0645 \u0625\u0644\u0649 \u0627\u0644\u0642\u0635\u0628\u0629 \u0627\u0644\u0647\u0648\u0627\u0626\u064a\u0629 \u0639\u0646 \u0627\u0644\u0631\u0636\u0627\u0639\u0629.\u0648 \u064a\u0635\u0639\u0628 \u0639\u0644\u064a\u0647 \u062d\u062a\u0649 \u0627\u0644\u062a\u062d\u0643\u0645 \u0641\u064a \u0628\u0644\u0639 \u0627\u0644\u0631\u064a\u0642 \u0648 \u0627\u0644\u0627\u0641\u0631\u0627\u0632\u0627\u062a \u0627\u0644\u0645\u062e\u0627\u0637\u064a\u0629 \u0627\u0644\u0645\u062a\u0631\u0627\u0643\u0645\u0629 \u0641\u064a \u0627\u0644\u062d\u0644\u0642.<\/p>\n

\u0643\u0645\u0627 \u062a\u062a\u0636\u062d (\u062e\u0627\u0635\u0629 \u0644\u0644\u0623\u0637\u0628\u0627\u0621) \u0627\u0647\u062a\u0632\u0627\u0632\u0627\u062a \u0645\u0633\u062a\u0645\u0631\u0629 \u0641\u064a \u0627\u0644\u0644\u0633\u0627\u0646 \u062a\u062c\u0639\u0644 \u062a\u0634\u062e\u064a\u0635 \u0627\u0644\u0645\u0631\u0636 \u0623\u0643\u062b\u0631 \u0648 \u0648\u0636\u0648\u062d\u0627 \u0644\u062f\u0649 \u0627\u0644\u0623\u0637\u0628\u0627\u0621.<\/p>\n

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\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u062b\u0627\u0646\u064a (\u0645\u062a\u0648\u0633\u0637 )<\/strong><\/span><\/p>\n

\u064a\u0634\u062e\u0635 \u0627\u0644\u0645\u0635\u0627\u0628\u0648\u0646 \u0628\u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0645\u0646 \u0627\u0644\u0636\u0645\u0648\u0631 \u0628\u0639\u062f \u0633\u0646 \u0633\u0628\u0639 \u0627\u0634\u0647\u0631 \u0648 \u062e\u0644\u0627\u0644 \u0627\u0644\u062b\u0645\u0627\u0646 \u0639\u0634\u0631 \u0634\u0647\u0631 \u0627\u0644\u0623\u0648\u0644\u0649. \u0648 \u062a\u0642\u0631\u064a\u0628\u0627 \u062f\u0627\u0626\u0645\u0627 \u0642\u0628\u0644 \u0625\u062a\u0645\u0627\u0645 \u0627\u0644\u0633\u0646\u0629 \u0627\u0644\u062b\u0627\u0646\u064a\u0629 \u0645\u0646 \u0627\u0644\u0639\u0645\u0631. \u0645\u0639 \u0623\u0646 \u0627\u0644\u063a\u0627\u0644\u0628\u064a\u0629 \u0642\u0628\u0644 \u0627\u0644\u0634\u0647\u0631 \u0627\u0644\u062e\u0627\u0645\u0633 \u0639\u0634\u0631.<\/p>\n

\u0642\u062f \u064a\u0633\u062a\u0637\u064a\u0639 \u0627\u0644\u0637\u0641\u0644 \u0627\u0644\u0645\u0635\u0627\u0628 \u0628\u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0645\u0646 \u0627\u0644\u062c\u0644\u0648\u0633 \u0628\u062f\u0648\u0646 \u0648\u0636\u0639 \u0633\u0627\u0646\u062f \u0644\u0647\u0645.\u0645\u0639 \u0623\u0646\u0647\u0645 \u0641\u064a \u0627\u0644\u063a\u0627\u0644\u0628 \u064a\u062d\u062a\u0627\u062c\u0648\u0646 \u0645\u0646 \u064a\u062d\u0631\u0643\u0647\u0645 \u0644\u0648\u0636\u0639\u064a\u0629 \u0627\u0644\u062c\u0644\u0648\u0633 \u0639\u0646\u062f\u0645\u0627 \u064a\u0643\u0648\u0646\u0648\u0627 \u0645\u0633\u062a\u0644\u0642\u064a\u0646.\u0648 \u0642\u062f \u064a\u0633\u062a\u0637\u064a\u0639 \u0627\u0644\u0645\u0635\u0627\u0628 \u0641\u064a \u0645\u0631\u062d\u0644\u0629 \u0645\u062a\u0623\u062e\u0631\u0629 \u0645\u0646 \u0627\u0644\u0648\u0642\u0648\u0641 \u0648 \u0644\u0643\u0646 \u0628\u0645\u0633\u0627\u0639\u062f\u0629 \u0627\u0644\u0623\u062c\u0647\u0632\u0629 \u0627\u0644\u0645\u0633\u0627\u0639\u062f\u0629 \u0648 \u0627\u0644\u0633\u0627\u0646\u062f\u0629.<\/p>\n

\u0648 \u0641\u064a \u0627\u0644\u063a\u0627\u0644\u0628 \u0641\u0627\u0646 \u0627\u0644\u0645\u0635\u0627\u0628 \u0628\u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0644\u0627 \u064a\u0648\u0627\u062c\u0647 \u0645\u0634\u0627\u0643\u0644 \u0641\u064a \u0627\u0644\u062a\u063a\u0630\u064a\u0629 \u0648 \u0644\u0643\u0646 \u0642\u062f \u064a\u0635\u0639\u0628 \u0639\u0644\u064a\u0647 \u062a\u0646\u0627\u0648\u0644 \u0643\u0645\u064a\u0629 \u0643\u0627\u0641\u064a\u0629 \u0645\u0646 \u0627\u0644\u063a\u0630\u0627\u0621 \u0639\u0646 \u0637\u0631\u064a\u0642 \u0627\u0644\u0641\u0645 \u0646\u062a\u064a\u062c\u0629 \u0644\u0636\u0639\u0641 \u0627\u0644\u0645\u0636\u063a \u0648 \u0627\u0644\u0628\u0644\u0639. \u0648\u0644\u0630\u0644\u0643 \u0642\u062f \u064a\u062d\u062a\u0627\u062c\u0648\u0646 \u0644\u062a\u0646\u0627\u0648\u0644 \u0627\u0644\u0645\u0632\u064a\u062f \u0645\u0646 \u0627\u0644\u0637\u0639\u0627\u0645 \u0648 \u0627\u0644\u063a\u0630\u0627\u0621 \u0639\u0628\u0631 \u0623\u0646\u0628\u0648\u0628 \u0641\u064a \u0627\u0644\u0623\u0646\u0641 \u0623\u0648 \u0639\u0646 \u0637\u0631\u064a\u0642 \u0627\u0644\u0628\u0637 \u0645\u0628\u0627\u0634\u0631\u0629 \u0625\u0644\u0649 \u0627\u0644\u0645\u0639\u062f\u0629 \u062e\u0627\u0635\u0629 \u0625\u0630\u0627 \u0643\u0627\u0646 \u0647\u0646\u0627\u0643 \u062e\u0648\u0641 \u0645\u0646 \u062f\u062e\u0648\u0644 \u0627\u0644\u0637\u0639\u0627\u0645 \u0625\u0644\u0649 \u0627\u0644\u062c\u0647\u0627\u0632 \u0627\u0644\u062a\u0646\u0641\u0633\u064a.<\/p>\n

\u0643\u0645\u0627 \u064a\u0639\u0627\u0646\u064a \u0627\u0644\u0645\u0635\u0627\u0628 \u0628\u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0628\u0636\u0639\u0641 \u0641\u064a \u0639\u0636\u0644\u0627\u062a \u0627\u0644\u062a\u0646\u0641\u0633 \u0648 \u0623\u0646 \u0643\u0627\u0646 \u064a\u0633\u062a\u0637\u064a\u0639 \u0623\u0646 \u064a\u062a\u0646\u0641\u0633 \u0628\u0634\u0643\u0644 \u062c\u064a\u062f \u0648 \u0643\u0627\u0641\u064a \u0625\u0644\u0649 \u0623\u0646 \u0642\u062f\u0631\u062a\u0647 \u0639\u0644\u0649 \u0627\u0644\u0645\u062d\u0627\u0641\u0638\u0629 \u0639\u0644\u0649 \u0645\u0633\u062a\u0648\u0649 \u0643\u0627\u0641\u064a \u0645\u0646 \u0627\u0644\u0623\u0643\u0633\u062c\u064a\u0646 \u0641\u064a \u0627\u0644\u062f\u0645 \u062e\u0644\u0627\u0644 \u0627\u0644\u0646\u0648\u0645 \u0635\u0639\u0628 \u0628\u0639\u0636 \u0627\u0644\u0634\u064a\u0621 \u0648 \u0642\u062f \u064a\u062d\u062a\u0627\u062c \u0627\u0644\u0634\u062e\u0635 \u0625\u0644\u0649 \u0627\u0633\u0637\u0648\u0627\u0646\u0629 \u0623\u0643\u0633\u062c\u064a\u0646 \u0643\u0645\u0633\u0627\u0639\u062f\u0629. \u0643\u0645\u0627 \u0623\u0646 \u0647\u0646\u0627\u0643 \u0636\u0639\u0641 \u0641\u064a \u0627\u0644\u0643\u062d\u0629 \u0648 \u0637\u0631\u062f \u0627\u0644\u0627\u0641\u0631\u0627\u0632\u0627\u062a \u0627\u0644\u062a\u0646\u0641\u0633\u064a\u0629 \u0648 \u0644\u0630\u0644\u0643 \u0642\u062f \u062a\u0643\u062b\u0631 \u0644\u062f\u064a\u0647\u0645 \u0627\u0644\u0627\u0644\u062a\u0647\u0627\u0628\u0627\u062a \u0627\u0644\u0631\u0626\u0648\u064a\u0629.<\/p>\n

\u0643\u0645\u0627 \u062a\u0638\u0647\u0631 \u0627\u0644\u0627\u0647\u062a\u0632\u0627\u0632\u0627\u062a \u0627\u0644\u0645\u0645\u064a\u0632\u0629 \u0644\u0645\u0631\u0636 \u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a \u0641\u064a \u0627\u0644\u0644\u0633\u0627\u0646 \u0641\u064a \u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0623\u064a\u0636\u0627. \u0648 \u0645\u0646 \u0627\u0644\u0634\u0627\u0626\u0639 \u0623\u064a\u0636\u0627 \u062d\u062f\u0648\u062b \u0627\u0646\u062d\u0646\u0627\u0621 \u0648 \u062a\u0642\u0648\u0633 \u0641\u064a \u0627\u0644\u0639\u0645\u0648\u062f \u0627\u0644\u0641\u0642\u0631\u064a \u0642\u062f \u064a\u0633\u062a\u062f\u0639\u064a \u0625\u062c\u0631\u0627\u0621 \u0639\u0645\u0644\u064a\u0629 \u062c\u0631\u0627\u062d\u064a\u0629 \u0645\u0639 \u0647\u0634\u0627\u0634\u0629 \u0639\u0627\u0645\u0629 \u0641\u064a \u0627\u0644\u0639\u0638\u0627\u0645.<\/p>\n

\u0648 \u0645\u0639 \u0646\u0645\u0648 \u0627\u0644\u062c\u0633\u0645 \u064a\u0632\u062f\u0627\u062f \u0627\u0644\u0636\u063a\u0637 \u0639\u0644\u0649 \u0627\u0644\u062e\u0644\u0627\u064a\u0627 \u0627\u0644\u0639\u0635\u0628\u064a\u0629 \u0648 \u0644\u0630\u0644\u0643 \u0642\u062f \u062a\u062f\u0647\u0648\u0631 \u0635\u062d\u0629 \u0627\u0644\u0645\u0631\u064a\u0636 \u0645\u0639 \u0627\u0644\u0648\u0642\u062a \u0648 \u0642\u062f \u062a\u062b\u0628\u062a \u062d\u0627\u0644\u062a\u0647 \u0644\u0645\u062f\u0629 \u0637\u0648\u064a\u0644\u0629.<\/p>\n

\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u062b\u0627\u0644\u062b\u00a0 (\u062e\u0641\u064a\u0641)<\/strong><\/span><\/p>\n

\u064a\u0637\u0644\u0642 \u0639\u0644\u0649 \u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0623\u064a\u0636\u0627 \u0645\u0631\u0636 \u0643\u0648\u062c\u0644 \u0628\u064a\u0631\u0642-\u0641\u0644\u064a\u0646\u062f\u0631 (Kugelberg-Welander)<\/p>\n

\u0648 \u064a\u062a\u0631\u0627\u0648\u062d \u0633\u0646 \u0638\u0647\u0648\u0631 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0641\u064a \u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0628\u0634\u0643\u0644 \u0643\u0628\u064a\u0631.\u0641\u0642\u062f \u064a\u062a\u0631\u0627\u0648\u062d \u0638\u0647\u0648\u0631 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0628\u064a\u0646 \u0627\u0644\u0633\u0646\u0629 \u0627\u0644\u0623\u0648\u0644\u0649 \u0645\u0646 \u0627\u0644\u0639\u0645\u0631 \u0625\u0644\u0649 \u0648\u0642\u062a \u0627\u0644\u0628\u0644\u0648\u063a \u062d\u062a\u0649 \u0628\u0639\u062f \u0630\u0644\u0643 \u0627\u0644\u0639\u0645\u0631.\u0645\u0639 \u0623\u0646 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0641\u064a \u0627\u0644\u0639\u0627\u062f\u0629 \u062a\u0628\u062f\u0623 \u0628\u0627\u0644\u0638\u0647\u0648\u0631 \u062e\u0644\u0627\u0644 \u0627\u0644\u062b\u0644\u0627\u062b \u0627\u0644\u0633\u0646\u0648\u0627\u062a \u0627\u0644\u0623\u0648\u0644\u0649<\/p>\n

\u062a\u0628\u062f\u0623 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0639\u0627\u062f\u0629 \u0641\u064a \u0627\u0644\u0623\u064a\u062f\u064a, \u0627\u0644\u0623\u0642\u062f\u0627\u0645 \u0648 \u0627\u0644\u0644\u0651\u0633\u0627\u0646 \u0648 \u0627\u0646\u062a\u0634\u0631\u062a \u0625\u0644\u0649 \u0627\u0644\u0645\u0646\u0627\u0637\u0642 \u0627\u0644\u0623\u062e\u0631\u0649 \u0644\u0644\u062c\u0633\u0645<\/p>\n

\u064a\u0633\u062a\u0637\u064a\u0639 \u0627\u0644\u0645\u0631\u064a\u0636 \u0625\u0646 \u064a\u0642\u0641 \u0648 \u064a\u0645\u0634\u064a \u0648\u064a\u0645\u0627\u0631\u0633 \u062d\u064a\u0627\u062a\u0647 \u0627\u0644\u0637\u0628\u064a\u0639\u064a\u0629 \u0648 \u0645\u0639 \u0639\u062f\u0645 \u062a\u0623\u062e\u0631 \u0641\u064a \u0627\u0644\u0646\u0645\u0648 \u0623\u0648 \u0627\u0643\u062a\u0633\u0627\u0628 \u0627\u0644\u0645\u0647\u0627\u0631\u0627\u062a \u0627\u0644\u0623\u0633\u0627\u0633\u064a\u0629. \u0648 \u0644\u0643\u0646 \u0642\u062f \u064a\u0644\u0627\u062d\u0638 \u0627\u0644\u0623\u0647\u0644 \u0643\u062b\u0631 \u0629 \u062a\u0639\u062b\u0631 \u0627\u0644\u0637\u0641\u0644 \u0648 \u0635\u0639\u0648\u0628\u0629 \u0627\u0644\u0646\u0647\u0648\u0636 \u0645\u0646 \u0648\u0636\u0639 \u0627\u0644\u062c\u0644\u0648\u0633 \u0648 \u0641\u064a \u0644\u0627\u0646\u062d\u0646\u0627\u0621 \u0648 \u0642\u062f \u064a\u062a\u0637\u0648\u0631 \u0627\u0644\u0645\u0631\u0636 \u062d\u062a\u0649 \u064a\u0635\u0628\u062d \u0627\u0644\u0645\u0631\u064a\u0636 \u063a\u064a\u0631 \u0642\u0627\u062f\u0631 \u0639\u0644\u0649 \u0627\u0644\u0645\u0634\u064a\u00a0 \u0645\u0639 \u062a\u0642\u062f\u0645 \u0627\u0644\u0639\u0645\u0631 \u0641\u064a\u062d\u062a\u0627\u062c \u0625\u0644\u0649 \u0627\u0633\u062a\u0639\u0645\u0627\u0644 \u0627\u0644\u0643\u0631\u0633\u064a \u0627\u0644\u0645\u062a\u062d\u0631\u0643.<\/p>\n

\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0631\u0627\u0628\u0639(\u0627\u0644\u0643\u0628\u0627\u0631)<\/strong><\/span><\/p>\n

\u062a\u0638\u0647\u0631 \u0623\u0639\u0631\u0627\u0636 \u0647\u0630\u0627 \u0627\u0644\u0646\u0648\u0639 \u0628\u0639\u062f \u0627\u0644\u0633\u0646 35 \u0633\u0646\u0629. \u0648 \u0645\u0646 \u0627\u0644\u0646\u0627\u062f\u0631 \u062c\u062f\u0627 \u0623\u0646 \u062a\u0638\u0647\u0631 \u0628\u064a\u0646 \u0633\u0646 \u062b\u0645\u0627\u0646 \u0639\u0634\u0631 \u0633\u0646\u0629 \u0648 \u062b\u0644\u0627\u062b\u0648\u0646 \u0633\u0646\u0629.\u0648 \u062a\u0638\u0647\u0631 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0628\u0627\u0644\u062a\u062f\u0631\u064a\u062c \u0648 \u0628\u0634\u0643\u0644 \u0628\u0637\u064a\u0621 \u0643\u0645\u0627 \u0623\u0646\u0647\u0627 \u0645\u0646 \u0627\u0644\u0646\u0627\u062f\u0631 \u0623\u0646 \u064a\u0635\u064a\u0628 \u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0641\u0645 \u0627\u0644\u0645\u062a\u0639\u0644\u0642\u0629 \u0628\u0627\u0644\u0628\u0644\u0639 \u0648 \u062a\u0646\u0633\u064a\u0642 \u0627\u0644\u062a\u0646\u0641\u0633.<\/p>\n

\u0648\u0645\u0646 \u0627\u0644\u0623\u0634\u064a\u0627\u0621 \u0627\u0644\u0623\u0633\u0627\u0633\u064a\u0629 \u0648 \u0627\u0644\u0645\u0645\u064a\u0632\u0629 \u0644\u0645\u0631\u0636 \u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a \u0628\u0643\u0644 \u0623\u0646\u0648\u0627\u0639\u0647 (\u0627\u0644\u0623\u0648\u0644 \u0648 \u0627\u0644\u062b\u0627\u0646\u064a \u0648 \u0627\u0644\u062b\u0627\u0644\u062b \u0648 \u0627\u0644\u0631\u0627\u0628\u0639) \u0647\u0648 \u0633\u0644\u0627\u0645\u0629 \u0627\u0644\u062d\u0648\u0627\u0633 \u0627\u0644\u0623\u062e\u0631\u0649 \u0648 \u0633\u0644\u0627\u0645\u0629 \u0627\u0644\u0639\u0642\u0644 \u0648 \u0627\u0644\u0625\u062f\u0631\u0627\u0643 \u0648 \u0627\u0644\u062a\u0641\u0643\u064a\u0631.<\/p>\n\n\n\n\n\n\n\n
\u0627\u0644\u0646\u0648\u0639<\/span><\/td>\n\u0627\u0644\u0639\u0645\u0631 \u0639\u0646\u062f \u0627\u0644\u0625\u0635\u0627\u0628\u0629<\/span><\/td>\n\u0627\u0644\u0639\u0645\u0631 \u0627\u0644\u0627\u0641\u062a\u0631\u0627\u0636\u064a<\/span><\/td>\n\u0645\u0647\u0627\u0631\u0627\u062a \u0627\u0644\u0646\u0645\u0648<\/span><\/td>\n\u0625\u0636\u0627\u0641\u0627\u062a<\/span><\/td>\n<\/tr>\n
\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0623\u0648\u0644<\/span><\/td>\n\u0642\u0628\u0644 6 \u0627\u0634\u0647\u0631<\/span><\/td>\n\u0627\u0642\u0644 \u0645\u0646 \u0633\u0646\u062a\u064a\u0646<\/span><\/td>\n\u064a\u062c\u0644\u0633\u0648\u0646 \u0628\u0627\u0644\u0645\u0633\u0627\u0639\u062f\u0629<\/span><\/td>\n\u0635\u0639\u0648\u0628\u0627\u062a \u0648\u0627\u0636\u062d\u0629 \u0641\u064a \u0627\u0644\u062a\u0646\u0641\u0633 \u0648 \u0627\u0644\u0628\u0644\u0639. \u0645\u0639 \u0627\u0647\u062a\u0632\u0632 \u0641\u064a \u0627\u0644\u0644\u0633\u0627\u0646<\/span><\/td>\n<\/tr>\n
\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u062b\u0627\u0646\u064a<\/span><\/td>\n6-18 \u0634\u0647\u0631<\/span><\/td>\n70% \u064a\u0639\u064a\u0634\u0648\u0646 \u0625\u0644\u0649 25 \u0633\u0646\u0629<\/span><\/td>\n\u064a\u0633\u062a\u0637\u064a\u0639\u0648\u0646 \u0627\u0644\u062c\u0644\u0648\u0633 <\/span><\/td>\n\u0627\u0647\u062a\u0632\u0627\u0632 \u0641\u064a \u0627\u0644\u0623\u0635\u0627\u0628\u0639 \u0648 \u0627\u0644\u0644\u0633\u0627\u0646.\u064a\u0635\u0627\u0628 50% \u0628\u062a\u0642\u0648\u0633 \u0628\u0627\u0644\u0638\u0647\u0631<\/span><\/td>\n<\/tr>\n
\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u062b\u0627\u0644\u062b<\/span><\/td>\n\u0628\u0639\u062f 12 \u0634\u0647\u0631<\/span><\/td>\n\u0637\u0628\u064a\u0639\u064a<\/span><\/td>\n\u064a\u0639\u062a\u0645\u062f\u0648\u0646 \u0639\u0644\u0649 \u0623\u0646\u0641\u0633\u0647\u0645 \u0641\u064a \u0627\u0644\u062d\u0631\u0643\u0629<\/span><\/td>\n<\/td>\n<\/tr>\n
\u0627\u0644\u0646\u0648\u0639 \u0627\u0644\u0631\u0627\u0628\u0639<\/span><\/td>\n \u0628\u0627\u0644\u063a<\/span><\/td>\n\u0637\u0628\u064a\u0639\u064a<\/span><\/td>\n\u0637\u0628\u064a\u0639\u064a\u0629<\/span><\/td>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

\u0627\u0644\u062a\u0634\u062e\u064a\u0635<\/b><\/span><\/h2>\n

\u064a\u0641\u062d\u0635 \u0627\u0644\u0623\u0637\u0628\u0627\u0621 \u0627\u0644\u0645\u0631\u0636 \u062d\u0633\u0628 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0627\u0644\u062e\u0627\u0631\u062c\u064a\u0629 \u0644\u0644\u0645\u0631\u0636 \u0648 \u062a\u0633\u0644\u0633\u0644 \u062a\u0627\u0631\u064a\u062e \u0627\u0644\u0645\u0631\u0636. \u0648 \u0645\u0646 \u0623\u0647\u0645 \u0627\u0644\u0623\u0639\u0631\u0627\u0636 \u0647\u064a \u0627\u0631\u062a\u062e\u0627\u0621\u00a0 \u0648 \u0636\u0639\u0641 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0648 \u0627\u0647\u062a\u0632\u0627\u0632 \u0627\u0644\u0644\u0633\u0627\u0646. \u0648 \u064a\u0633\u062a\u0639\u064a\u0646 \u0627\u0644\u0623\u0637\u0628\u0627\u0621 \u0628\u0628\u0639\u0636 \u0627\u0644\u0641\u062d\u0648\u0635\u0627\u062a \u0627\u0644\u0637\u0628\u064a\u0629 \u0648 \u0627\u0644\u062a\u064a \u062a\u062a\u0645\u062b\u0644 \u0641\u064a \u062a\u062e\u0637\u064a\u0637 \u0627\u0644\u0639\u0636\u0644\u0627\u062a (Electroyography) \u0648 \u062a\u062e\u0637\u064a\u0637 \u0627\u0644\u0639\u0635\u0628(\u0627\u0644\u0623\u0644\u064a\u0627\u0641 \u0627\u0644\u0639\u0635\u0628\u064a\u0629) Nerve Conduction Velocity\u0645\u0639 \u0627\u0644\u0641\u062d\u0648\u0635\u0627\u062a \u0627\u0644\u0623\u062e\u0631\u0649 \u0644\u062a\u0623\u0643\u062f \u0645\u0646 \u0639\u062f\u0645 \u0648 \u062c\u0648\u062f \u0623\u0645\u0631\u0627\u0636 \u0623\u062e\u0631\u0649 \u0645\u0634\u0627\u0628\u0647\u0647 \u0644\u0647 \u0643\u0642\u064a\u0627\u0633 \u0625\u0646\u0632\u064a\u0645 \u0627\u0644\u0639\u0636\u0644\u0629 (CPK) \u0641\u064a \u062d\u0627\u0644\u0629 \u0623\u0645\u0631\u0627\u0636 \u0627\u0644\u0639\u0636\u0644\u0627\u062a.\u0648 \u0641\u064a \u0627\u0644\u0633\u0627\u0628\u0642 \u0643\u0627\u0646 \u0627\u0644\u0623\u0637\u0628\u0627\u0621 \u064a\u0639\u062a\u0645\u062f\u0648\u0646 \u0639\u0644\u0649 \u0639\u064a\u0646\u0629 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0644\u062a\u0634\u062e\u064a\u0635 \u0627\u0644\u0646\u0647\u0627\u0626\u064a \u0644\u0644\u0645\u0631\u0636 \u0648 \u0644\u0643\u0646 \u0648 \u0645\u0639 \u062a\u0648\u0641\u0631\u00a0 \u0627\u0644\u062a\u062d\u0644\u064a\u0644 \u0627\u0644\u062c\u064a\u0646\u064a( \u062a\u062d\u0644\u064a\u0644 SMN gene) \u0642\u0644 \u0628\u0634\u0643\u0644 \u0643\u0628\u064a\u0631 \u0625\u062c\u0631\u0627\u0621 \u0647\u0630\u0627 \u0627\u0644\u062a\u062d\u0644\u064a\u0644 \u0648 \u064a\u062c\u0631\u0649 \u0641\u064a \u0627\u0644\u0645\u0631\u0627\u0643\u0632 \u0627\u0644\u062a\u064a \u0644\u0627 \u064a\u062a\u0648\u0641\u0631 \u0641\u064a\u0647\u0627 \u0647\u0630\u0627 \u0627\u0644\u062a\u062d\u0644\u064a\u0644 \u0623\u0648 \u0641\u064a \u0627\u0644\u062d\u0627\u0644\u0627\u062a \u0627\u0644\u062a\u064a \u0638\u0647\u0631\u062a \u0641\u064a\u0647\u0627 \u0646\u062a\u0627\u0626\u062c \u0627\u0644\u062a\u062d\u0644\u064a\u0644 \u0633\u0644\u064a\u0645\u0629 \u0628\u064a\u0646\u0645\u0627 \u0627\u0644\u0623\u0637\u0628\u0627\u0621 \u0644\u062f\u064a\u0647\u0645 \u0642\u0646\u0627\u0639\u0629 \u0641\u064a \u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0628\u0647\u0630\u0627 \u0627\u0644\u0645\u0631\u0636.<\/p>\n

\u0648\u0639\u0646\u062f \u0625\u062c\u0631\u0627\u0621 \u0627\u0644\u0641\u062d\u0635 \u0627\u0644\u062c\u064a\u0646\u064a \u0641\u0627\u0646 \u0623\u0643\u062b\u0631 \u0645\u0646 95% (\u0628\u0627\u0644\u0636\u0628\u0637 95-98%) \u0645\u0646 \u0627\u0644\u0645\u0635\u0627\u0628\u064a\u0646 \u0628\u0645\u0631\u0636 \u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a \u0627\u0644\u0634\u0648\u0643\u064a \u0644\u062f\u064a\u0647\u0645 \u0646\u0642\u0635 \u0641\u064a \u0643\u0644\u0627 \u0646\u0633\u062e\u062a\u064a \u062c\u064a\u0646 \u0625\u0633 \u0625\u0645 \u0625\u0646 \u0631\u0642\u0645 \u0648\u0627\u062d\u062f \u0648 \u0627\u0644\u062a\u064a \u062c\u0627\u0621\u062a \u0645\u0646 \u0627\u0644\u0623\u0628 \u0648 \u0627\u0644\u0623\u0645. \u0628\u064a\u0646\u0645\u0627 5% (\u0628\u0627\u0644\u0636\u0628\u0637 2-5%)\u0644\u064a\u062f\u0647\u0645 \u0646\u0642\u0635 \u0641\u064a \u0623\u062d\u062f\u0649 \u0627\u0644\u0646\u0633\u062e\u062a\u064a\u0646 \u0648 \u0627\u0644\u0646\u0633\u062e\u0629 \u0627\u0644\u0623\u062e\u0631\u0649 \u0641\u064a\u0647\u0627 \u062a\u063a\u064a\u0631 \u0641\u064a \u062a\u0633\u0644\u0633\u0644 \u0627\u0644\u062f\u064a \u0625\u0646 \u0623\u064a(Point Mutation ) \u0648 \u0644\u064a\u0633 \u0646\u0642\u0635.\u0648 \u0641\u064a \u0643\u0644 \u0627\u0644\u062d\u0627\u0644\u0627\u062a \u0627\u0644\u0646\u0627\u062a\u062c\u0629 \u0639\u0646\u00a0 \u0646\u0642\u0635 \u062c\u064a\u0646 \u0625\u0645 \u0625\u0633 \u0625\u0646\u00a0 \u064a\u0643\u0648\u0646 \u0627\u0644\u0646\u0642\u0635 \u0641\u064a \u0627\u0644\u062c\u0632\u0621\u00a0 \u0627\u0644\u0645\u0633\u0645\u0649 \u0628\u0623\u0643\u0633\u0648\u0646 7 \u0648 \u0623\u0643\u0633\u0648\u0646 8 (Exons 7 and 8 ) . \u0648 \u0644\u0630\u0644\u0643 \u0641\u0627\u0646 \u0627\u0644\u0645\u062e\u062a\u0628\u0631\u0627\u062a \u0639\u0646\u062f \u0641\u062d\u0635\u0647\u0627 \u0644\u062c\u064a\u0646 \u0625\u0645 \u0625\u0633 \u0625\u0646 \u0631\u0642\u0645 \u0648\u0627\u062d\u062f \u062a\u0641\u062d\u0635\u00a0 \u0627\u0643\u0633\u0648\u0646 7 \u0648 8. \u0641\u0625\u0630\u0627 \u0644\u0645 \u062a\u0643\u0646 \u0645\u0648\u062c\u0648\u062f\u0629 \u0641\u0625\u0646\u0647\u0627 \u062a\u0623\u0643\u062f \u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0628\u0627\u0644\u0645\u0631\u0636. \u0648 \u0644\u0643\u0646 \u0639\u062f\u0645 \u0648 \u062c\u0648\u062f \u0627\u0644\u0646\u0642\u0635 \u0644\u0627 \u064a\u0639\u0646\u064a \u0628\u0627\u0644\u0636\u0631\u0648\u0631\u0629 \u0639\u062f\u0645 \u0627\u0644\u0625\u0635\u0627\u0628\u0629 \u0648 \u0630\u0644\u0643 \u0644\u0628\u0639\u0636 \u0627\u0644\u0625\u0634\u0643\u0627\u0644\u0627\u062a \u0627\u0644\u0641\u0646\u064a\u0629 \u0627\u0644\u062a\u064a \u0642\u062f \u064a\u0637\u0648\u0644 \u0627\u0644\u062d\u062f\u064a\u062b \u0639\u0646\u0647\u0627.<\/p>\n

\u0623\u0645\u0627 \u0641\u064a \u062d\u0627\u0644\u0629 \u062a\u063a\u064a\u0631 \u0627\u0644\u062a\u0633\u0644\u0633\u0644 \u0641\u064a \u0627\u0644\u062f\u064a \u0625\u0646 \u0623\u064a \u0641\u0625\u0646\u0647 \u064a\u0643\u0634\u0641 \u0639\u0646\u0647\u0627 \u0639\u0646 \u0637\u0631\u064a\u0642 \u0641\u062d\u0635 \u0627\u0644\u062c\u064a\u0646 \u0628\u0627\u0644\u0643\u0627\u0645\u0644 \u0648 \u0645\u0639\u0631\u0641\u0629 \u062a\u0633\u0644\u0633\u0644\u0647(Sequence analysis)<\/p>\n

\u0648 \u064a\u062e\u062a\u0644\u0641 “\u0646\u0648\u0639” \u0648 \u0634\u062f\u0629 \u0627\u0644\u0645\u0631\u0636 \u062d\u0633\u0628 “\u0627\u0644\u0639\u062f\u062f \u0627\u0644\u0625\u062c\u0645\u0627\u0644\u064a” \u0644\u0644\u062c\u064a\u0646 \u0631\u0642\u0645 \u0627\u062b\u0646\u0627\u0646” \u0648 \u0627\u0644\u0645\u0633\u0645\u0649 \u0628\u0625\u0645 \u0625\u0633 \u0625\u0646 \u0631\u0642\u0645 \u0627\u062b\u0646\u0627\u0646 ( \u062a\u0627\u0628\u0639 \u0627\u0644\u0642\u0631\u0627\u0621\u0629 \u0644\u0643\u064a \u062a\u062a\u0636\u062d \u0644\u0643 \u0647\u0630\u0647 \u0627\u0644\u0645\u0633\u0623\u0644\u0629.<\/p>\n

\u0648 \u0644\u0627 \u064a\u0639\u062a\u0645\u062f \u0639\u0644\u0649 \u062a\u062d\u0644\u064a\u0644 “\u0646\u0642\u0635 ” \u0627\u0644\u062c\u064a\u0646 \u0648 \u0644\u0627 \u062d\u062a\u0649 \u062a\u0633\u0644\u0633\u0644 \u0627\u0644\u062f\u064a \u0625\u0646 \u0623\u064a \u0644\u0644\u0643\u0634\u0641 \u0639\u0644\u0649 \u0627\u0644\u0634\u062e\u0635 \u0627\u0644\u063a\u064a\u0631 \u0645\u0635\u0627\u0628 \u0644\u0645\u0639\u0631\u0641\u0629 \u0625\u0630\u0627 \u0645\u0627 \u0643\u0627\u0646 “\u062d\u0627\u0645\u0644” \u0644\u0644\u0645\u0631\u0636 \u0623\u0645 \u0644\u0627 \u0628\u0644 \u064a\u062d\u062a\u0627\u062c \u0627\u0644\u0623\u0645\u0631 \u0625\u0644\u0649 \u0637\u0631\u064a\u0642\u0629 \u0623\u062e\u0631\u0649 \u062a\u0639\u0631\u0641 (SMN gene<\/a> dosage analysis)\u0648 \u0627\u0644\u062a\u064a \u062a\u0639\u062a\u0645\u062f \u0639\u0644\u0649 \u0627\u0644\u0628\u064a \u0633\u064a \u0627\u0631 (PCR-based dosage assay). \u0623\u0648 \u062a\u0633\u062a\u062e\u062f\u0645 \u0637\u0631\u064a\u0642\u0629\u00a0 \u0627\u0644\u062a\u0631\u0627\u0628\u0637 (Linkage analysis).<\/p>\n

\u0627\u0644\u062c\u064a\u0646 \u0627\u0644\u0645\u0633\u0628\u0628 \u0644\u0636\u0645\u0648\u0631 \u0627\u0644\u0639\u0636\u0644\u0627\u062a <\/b><\/span><\/p>\n

\u0644\u0643\u064a \u062a\u062a\u0645\u0643\u0646 \u0645\u0646 \u0645\u062a\u0627\u0628\u0639\u0629 \u0634\u0631\u062d\u0646\u0627 \u0646\u0646\u0635\u062d\u0643 \u0623\u0648\u0644\u0627 \u0628\u0627\u0644\u0625\u0637\u0644\u0627\u0639 \u0639\u0644\u0649 \u0647\u0630\u0647 \u0627\u0644\u0635\u0641\u062d\u0629<\/a> \u0644\u0645\u0639\u0631\u0641\u0629 \u0627\u0644\u0645\u0639\u0644\u0648\u0645\u0627\u062a \u0627\u0644\u0623\u0633\u0627\u0633\u064a\u0629 \u0639\u0646 \u0627\u0644\u062e\u0644\u064a\u0629 \u0648 \u0627\u0644\u0646\u0648\u0627\u0629 \u0648 \u0627\u0644\u0643\u0631\u0648\u0645\u0648\u0633\u0648\u0645\u0627\u062a \u0648 \u0627\u0644\u062c\u064a\u0646\u0627\u062a \u0648 \u0627\u0644\u0628\u0631\u0648\u062a\u064a\u0646\u0627\u062a \u0628\u0634\u0643\u0644 \u0633\u0631\u064a\u0639. \u062b\u0645 \u062a\u0643\u0645\u0644 \u0642\u0631\u0627\u0621\u0629 \u0627\u0644\u0645\u0648\u0636\u0648\u0639.<\/p>\n

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\u0648 \u0628\u0630\u0644\u0643 \u0641\u0643\u0644 \u0625\u0646\u0633\u0627\u0646 \u0644\u062f\u064a\u0629 \u0646\u0633\u062e\u062a\u0627\u0646 \u0645\u0646 \u062c\u064a\u0646 \u0631\u0642\u0645 \u0648\u0627\u062d\u062f \u0648 \u0646\u0633\u062e\u062a\u0627\u0646 \u0645\u0646 \u062c\u064a\u0646 \u0631\u0642\u0645 2.<\/p>\n

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Spinraza (nusinersen)<\/a><\/p>\n

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