0000005598 00000 n Symptoms of SMA. The estimated incidence of SMA is 1 in 6,000 to 1 in 10,000 live births, and a carrier frequency of 1/40 – 1/60. �+���C�a��J�~w��o|{?��s�=~c��j؛k>�VJ1�4�Y�����C���"�>��_�vz����8, H��W�n�F}�W�c[$˽�ހ ��E��Hc}�B�)��,�"]��Y�u���V� ����\Ι)O�C�\ԃx����w�(?.V�v1��V�'ð��͕�\V�N���0tע��Y��Ԯփ�R��vw� �Xa��N8d�"j-�_޿?�pV�] ��W-(�6D%�M��Ob[�g�FԽ����m�E+��S�A:�4gݦ۷�Ͱok�o��g|`�Ϟ�,�/Ί�c����/�D~O/S���x�iU�Ue�a�,�*��r��E�f��n�6��a���E % (+���ˋqY�T?VߑV��qS����o#�WяW����'6z�FC�>��qr��� պ_�m�l�^,�Wx��۔��Q�f�`/�e�=D���N HJj? A physical examination may be done to look for signs of SMA or similar conditions. H��W�nG��+� N���$`�;��ٳ� ���j�D�j)H4tMp-�.�U�U�������huYRr�.y_��ǫ. �ܺ�`���'���2#tRϻ��j����a�Mղk7|6���Ap%�G��F����l˿��� ���t�;/�w_p�"ݞ#M� Y�Gn~���n0p��g�+?�����d��ae��D�'Z�]���YpC5����mN���w��绻a;nq�,Fw?,F���! 0000003152 00000 n 1–2% of healthy people from all ethnicities are carriers for spinal muscular atrophy. Spinal muscular atrophy is a genetic disease that results in progressive muscle weakness and paralysis. Non-carriers have 2 or 3 copies Please note: if you are not a Cleveland Clinic patient, call your health insurance provider to see if CCL phlebotomy services will be covered. If you are considering pregnancy, or are pregnant and have not been previously tested, talk to your healthcare provider about carrier screening. Most carriers have no family history of SMA, and may be unaware that they are at risk of having a child with SMA. 0000013828 00000 n Genetic testing is critical in preparing for and managing a successful pregnancy. However, genetic counseling is crucial so that parents can make informed decisions about having children. Speak to a GP if you're planning a pregnancy and: The GP may refer you for genetic counselling to help you understand the risk of your child having SMA. ! 0000001358 00000 n SMA has autosomal recessive inheritance, i.e., if two SMA carriers have a child, there is a 1 in 4 (25%) chance that the child will have SMA. Very occasionally, other tests may be needed, too. We present a combined obstetric and respiratory perspective on two pregnancies for a woman with severe Type 2 Spinal Muscular Atrophy (SMA). 0000007228 00000 n Our representatives are available 24 hours a day, seven days a week to answer questions about sample collection, shipping and transportation, and test codes required for SMA testing. If you're pregnant and there's a risk you could have a child with SMA, tests can be carried out to check for the condition. Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement. Your doctor may be able to collect a blood sample at their office, or you may need to go to a laboratory draw site facility to have your blood drawn. genetic carrier screening recommendations, American College of Obstetricians and Gynecologists, American College of Medical Genetics and Genomics, Spinal Muscular Atrophy Testing Technical Brief, Carriers do not have the disease, but can potentially pass it on to their offspring. 0000001867 00000 n It's a serious condition that gets worse over time, but there are treatments to help manage the symptoms. If you're at risk of having a child with SMA, talk to your genetic counsellor about your options. 0000017370 00000 n Our Spinal Muscular Atrophy Testing Technical Brief provides a summary of the key elements of this test, including clinical significance and indications, interpretation of results, methodology, and specimen requirements. ^WT�+��l@#�=&�̢>�*����رh�Աt���U���vá��D��`���#�޿�+ W$�6u�"�" �5����v� TP6�J�� �i�x�&\������ɳ,�����qL����H��zN��˞x�C�k�w���ɻ���FK����.��$ �K�\��0�9���c���edJ8����A�D�ۈ�7*��[r��Q�K�;k!�>$q�;�K�o��5�_��E�,����Z�ԉ~ǓFOs�5�=-Z ��̕�ըe�� ���-�V�.x�E�����~�-�4�Y3����Qs�!Iy�3X���K&�K� /�8i�+��BjI#/�8��@��x��kn0ǜ��jL�K!8����{!�f�,���)ʩtD��OR;C�s�[V���x(�+e��6b��� ��58����d��(�>d�f�H� l�C��n؞���T��C��}��Ch͛ڗW���Y0BFW�By�BK�.�ސBn_C��k���M�8�ѓ�'ِ<4f3�$q��۝p�!`�%/�`�TKn���`�THn ?~���B����$K�p� �W���J�m��(6ZR��=�C(&�i���P|MN�7��Z�V��B��,���4P�6�C3d�{���ŜMQ�\�iC�R�Nc��>��):V��%�L�I(�&�CʨE��i��4?P�S.�b�v�˯���>�{����>mx����~��|���/��W��?�E�;SJZ��������cKK�EJ^"���b�^Μ� �J=p,�+^���N �>�r���R����3("Q�dˡ��L���b���lWRh�����W��l7#��N%� q�7W��}� %B$��j療v�$�VsX�w�.E[���+ mTP�t�,�3Q�K� ��U��-ۦ�/�.$T���h�K�_�(E0�&7ZLV�3���l`6�qr�P��5�VSB�K���St������0;����_���ȱ�w��deU�W}▍�UL�o�a�ir���PR���4΋����Ք��ز�-5��Z٠����u"�ݭ9 �[�a���� }����52I�şc��g{���g,7��xOE��k���k�#/R�յ���5�z���"TNJZ�︣cd��K� -Q�P*r�]%"h!z)v27$�[7=C�q��I� �%xXqitS.�D^k�̼n����x*����ĭ�SeK����]^Cyʥb*�8���r1|�)�8���4 ��j��Q1L���bj�_����x;�9�1a�OvDn�=?�:?0�꼅rM���6��]`X㉚K�u�h~����b"��>��+֨ I'�J-.E8l�uÌ��]-j��MJ��o-��Ѡm�[9~Z�SI&��x?�����y�r�!�|o�xv���4��~����ߛ����qe ������&�O�`��ͯ��6�z�~$�F����br�Њ����ż����3� ���������]ƙ���놄3%�V�;��۵�i 8� �j�8̼��2�4Q�A�u(���v9_��1Mc0Yp%Ǧ����rZ��l!Enٛ�����Ym}y�5�wAP��-Qq��h�t��g� ��ǭ�.�I�f;Gt6b��-� �+�e8��ȱ���Pq{�'��IFw��%.�*O�y8︐�JT��b��J�B��m)�˵��_N*~�H?9L��\��V���h�T&�����y��UI����/\����Z��㴢�����͕�W4ah�X�O�v���m�}�Z3��M��W�0�Cܓ[q��b�,c�nՀ �5�y>@P�%�#�Ҿ�1��|]��V�*�0�њH߭�nK�����Z�tphs�E�$��ӣa�= ��UȰ�J\Ѥo.

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