Introducing 

Prezi AI.

Your new presentation assistant.

Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.

Loading…
Transcript

Nerves

genes

GM1

Gangliosidosis

By: Sadie Greenhalgh

What is GM1 Gangliosidosis?

GM1 Gangliosidosis is a fatal disease that affects the brain and spinal cord

Types of GM1 Gangliosidosis

Types

There are three types of GM1 Gangliosidosis. Each one affects different age groups.

Type I

Type I

Type I GM1 Gangliosidosis affects infants. Many infants with Type I GM1 Gangliosidosis do not survive past early childhood.

Type 2

Type II

Type II GM1 Gangliosidosis affects older infants and juviniles. Type II progresses slower than Type I, so individuals with Type II usually survive into middle childhood. Those with the juvenile form of Type II can survive until early adulthood.

Type 3

Type III

Type III GM1 Gangliosidosis affects individuals under the age of thirty. Life expectancy varies for people with Type III GM1 Gangliosidosis.

How do you get it?

Get it

The GM1 Gangliosidosis disorder is an autosomal recessive disease

First...

The GM1 Gangliosidosis disorder is caused by mutations in the GLB1 gene.

Step I

Next...

Step 2

The GLB1 gene gives the brain instructions to create an enzyme called beta-galactosidase, which helps break down certain molecules, including GM1 Ganglioside. But when you have the mutation, the GLB1 doesn't do its job.

Then...

Step 3

Since the GM1 Ganglioside molecule isn't being broken down, it accumulates to toxic levels in tissues and organs.

Finally...

This leads to the descruction of nerve cells.

Step 4

Diagnose

How do you know someone has it?

Symptoms

Symptoms...

You can tell if someone has it if they have...

1. Course facial features

2. Poor muscle tone

3. Enlargement of the liver and/or spleen

4. An exaggerated startle reaction

5. Developmental regression

6. Skeletal abnormalities

7. Frequent seizures

8. Visual impairments

Please

Note...

Quick Disclaimer!

1. Always check with your doctor before diagnosing someone!

2. Jut because someone has one or two of those symptoms doesn't mean they have GM1 Gangliosidosis, because they could have something else.

3. Someone does not need to have all of the symptoms to have GM1 Gangliosidosis.

Pictures

This child is in a wheelchair because it cannot walk, due to GM1 Gangliosidosis affecting they're spinal cord

This child's eyes are clouding up, due to GM1 Gangliosidosis. This child most likely has trouble seeing

Pedigree charts + interview

Pedigrees +Interview

Example Pedigree

Example pedigree

My

Pedigree

My Pedigree

Interview

Interview with Gretchen Borchelt (mom)

Q: How does GM1 Gangliosidosis affect our family?

A: I am a carrier of GM1 Gangliosidosis, and my daughter Lux somehow received two of my carrier genes in a mutation. She had it, and passed from it.

Q: Did you receive genetic counseling? Can you explain about that?

A: Yes. Our genetic counselor helped us figure out whether we were carriers, helped explain everything to us, and talked about the risks for you, future children, and other family.

Q: What does being an advocate to someone with GM1 Gangliosidosis look like to you?

A: In my experience, our daughter with GM1 saw a lot of specialists, so she had a lot of appointments. She had a team at the hospital we used, two physical therapists, an occupational therapist, and a speech therapist.

Facts

Interesting facts!

Did you know...

Fact #1

In my family, when my sister with GM1 Gangliosidosis was being created, instead of getting one allele from my dad and one from my mom, there was a mutation, so my sister got two from my mom. It just happened to be my mom's carrier gene. Getting GM1 Gangliosidosis is really rare, but this scenario is even rarer.

Did you know...

Fact #2

There was a article written on my sister's scenario, about how to talk to patients when something like this happens.

Did you know...

It's quite rare to get GM1 Gangliosidosis. The chances are 1 in 100,000 to 200,000.

Fact #3

0.0004%

Did you know...

Fact #4

Scientists have launched the first in-human genetic gene therapy. They're not sure if it's effective or not, but it could be a game changer!

Did you know...

Fact #5

Cats can get GM1 Gangliosidosis too! Symptoms include vision loss, difficulties in walking, loss of balance, head tremors, lethargy and weight loss.

Sources

Sources

  • https://medlineplus.gov/genetics/condition/gm1-gangliosidosis/
  • https://rarediseases.info.nih.gov/diseases/10891/gm1-gangliosidosis#:~:text=GM1%20gangliosidosis%20is%20a%20hereditary,referred%20to%20as%20a%20carrier%20
  • https://www.childrenshospital.org/conditions-and-treatments/conditions/g/gm1-gangliosidosis
  • https://curegm1.org/
  • https://www.genome.gov/news/news-release/how-do-you-toast-a-gene-therapy-trial-with-tea
Learn more about creating dynamic, engaging presentations with Prezi