Spinal muscular atrophy_slide_show_(1)

1,845 views

Published on

0 Comments
1 Like
Statistics
Notes
  • Be the first to comment

No Downloads
Views
Total views
1,845
On SlideShare
0
From Embeds
0
Number of Embeds
3
Actions
Shares
0
Downloads
63
Comments
0
Likes
1
Embeds 0
No embeds

No notes for slide

Spinal muscular atrophy_slide_show_(1)

  1. 1. SYMPTOMSInfants:• Very little/ weak muscles – often first noticed in shoulders and legs• Breathing and feeding problems• Low head control• Worsening muscle weakness• Little movement• Low muscle toneChildren:• Respiratory conditions that are increasing in severity• Nasally speech• Increasingly worse posture
  2. 2. TREATMENTS• No prevention treatments• Supportive Care is important to the patient• Pay attention to the respiratory system• Physical therapy to help with spine structure and muscle and tendon strength• Brace may be needed
  3. 3. LOCATION OF THE GENE AFFECTING THISDISORDERThe gene that causes this disorder is located in chromosome 5q13and is known as survival motor neuron gene 1 (SMN1) You can see in the diagram that the gene that malfunctions causing SMA Type 1 is located where is says “SMA focus”
  4. 4. WHAT THE GENE SHOULD DO• Produce SMN1 proteins-giving instructions to build SMN proteins• SMN proteins play a huge role in the survival of motor neurons• Motor neurons send impulses which stimulate nerve cellsWHAT HAPPENS IN SMA• Little or no SMN1 proteins are produced• Little or no SMN proteins are produced• Motor neurons are not made and cannot send impulses which stimulate nerve cells
  5. 5. INHERITANCE PATTERN• It has autosomal recessive inheritance pattern that means that it is a recessive gene so in order to have the disease you have to have two mutated genes.• So one of your parents could have one gene and not express it that means they are a carrier. So their kids could inherit it though.• There is often no family history of the disease.
  6. 6. PREVALENCE IN POPULATION• 1 in 6000 people have the disease but 1 in 40 are carriers• Affects all people of all races and genders
  7. 7. BIBLIOGRAPHYBoard, A.D.A.M. Editorial. Spinal Muscular Atrophy. U.S. National Library of Medicine, 1 Feb. 2012. Web. 15 Dec. 2012.Overview | Spinal Muscular Atrophy | MDA." Muscular Dystrophy Association. Muscular Dystrophy Association, n.d. Web. 18 Dec. 2012.SMA in Laymens Terms." SMA in Laymens Terms. N.p., n.d. Web. 18 Dec. 2012.

×