SMA Registry

  • SMA
  • Spinal Muscular Atrophy (SMA) is an inherited neuromuscular condition that affects the nerve cells (motor neurons) in an area of the spinal cord called the anterior horn. Because the nerves are damaged, the muscles don’t receive signals from the brain correctly and so become wasted, or atrophied.
  • This muscle wasting can lead to problems with breathing as well as with movement (motor) activities such as crawling, sitting, walking, feeding and head control. Intelligence is not affected – indeed, many children with SMA appear to be particularly bright.
  • SMA  is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles.
  • SMA is inherited in an autosomal recessive pattern, which means that in order for a child to be affected, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Carrier parents have a 1 in 4 chance of having an affected child, a 2 in 4 chance of having a carrier child, and a 1 in 4 chance of having a child who is completely free of the affected gene.
  • Clinically there are four primary SMA types—I, II, III, and IV—based on age of onset and highest physical milestone achieved and clinical severity.
  • There’s great reason for hope novel therapies are emerging.
  • Diagnosis of SMA is through genetic tests through a blood sample.
  • Genetic test can simply done
  •  MYO-CARE Clinic.
  • SPINRAZA (Nusinersen) On December 23, 2016, the FDA announced that it has approved Spinraza for SMA, making it the first-ever approved therapy for SMA.


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الضمور الشوكى

هناك أربعة أنواع أساسية من الشكل الإكلينيكي للمرض على أساس سن بداية الأعراض


  ينتج بروتين مهم لوظيفة الأعصاب التي تتحكم في العضلات

 SMN1ينتج المرض عند حدوث طفرة في جين

يتم تشخيص المرض من خلال الاختبارات الجينية عن طريق عينة الدم

في  ديسمبر ، أعلنت ادارة الاغذية والعقاقير أنها وافقت على دواء سبينرازا (نوسينرسين)، أول علاج معتمد للضمور الشوكي. ومن المتوقع قبول عدة ادوية أخرى

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