Loading presentation...

Present Remotely

Send the link below via email or IM

Copy

Present to your audience

Start remote presentation

  • Invited audience members will follow you as you navigate and present
  • People invited to a presentation do not need a Prezi account
  • This link expires 10 minutes after you close the presentation
  • A maximum of 30 users can follow your presentation
  • Learn more about this feature in our knowledge base article

Do you really want to delete this prezi?

Neither you, nor the coeditors you shared it with will be able to recover it again.

DeleteCancel

Make your likes visible on Facebook?

Connect your Facebook account to Prezi and let your likes appear on your timeline.
You can change this under Settings & Account at any time.

No, thanks

Untitled Prezi

No description
by

Lora Spicer

on 14 December 2015

Comments (0)

Please log in to add your comment.

Report abuse

Transcript of Untitled Prezi

Alpha-mannosidosis
By: Lora Adams
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body.
When is birth defect detected?
Measuring acid alpha-mannosidase activity in leukocytes or other nucleated cells and can be comfirmed by genetic testing.
How it is detected
If they live to be older may have permanent heairng loss, stop growing and conditions can get worse.
Long term effects
Alpha-mannosidosis
Causes
Aplha-mannosidosis is caused by a mutation in the MAN2B1 gene.
Alpha-mannosidosis occurs in 1 of 500,000 live births
Characteristics
immune deficiency (recurrent infections)
skeletal abmormalities
hearing impairment
gradual impairment of mental functions and speech
muscular weakness
joint abnormalities
sometimes have large heads, flattened nasal brige, and widely spaced teeth.
Symptoms dont usually show or develop until after the first year of birth.
Treatments for alpha-mannosidosis
Tubes in ear for the fluid and most often hearing aids are needed.
Muscle therapy (recommended)
Enzyme replacement therapy.
Bone marrow transplants
There is no cure for alpha-mannosidosis
):
Sources cited
"Alpha-mannosidosis." Luke Chaplin and Alpha Mannosidosis. N.p., n.d. Web. 21 Mar. 2013.
http://www.biomedcentral.com/content/pdf/1750-1172-3-21.pdf
Then
& Now
Full transcript