https://padlet.com/dylan_brandt477/FixDuchennes Dylan Brandt: P3 Science en-us 2018-04-04 21:51:27 UTC 2024-06-07 04:46:43 UTC hello@padlet.com https://padlet-assets.s3.amazonaws.com/icons/Doubleheart.png dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/248692584 DMD: Full name for Duchenne Syndrome, also known as Duchenne Muscular Dystropy(DMD)

This X-linked genetic disorder causes progressive muscle degeneration and weakness. This condition is one of nine types of muscular dystrophy, and is caused by the absence of the protein dystrophin, which keeps muscle cells intact. Symptoms start as early as 3 - 5 years old, and most people with this condition don't make it past their early 20's. This disorder is primarily in males.]]> 2018-04-04 21:58:52 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/248692584 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/248693288 Symptoms start very early, and begin with muscle weakness and developmental delays at about the age of 3.

Muscles affected-
Hips/Pelvic area
Thighs
Shoulders
Later the arms, legs, and trunk are affected
By the early teens, the heart and respiratory muscles are affected

Abnormality walking
Difficulty standing
Trouble walking/running
Scoliosis(the curving if the spine)]]> 2018-04-04 22:04:53 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/248693288 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/248694561 Duchenne is a X - linked condition. The gene DMD, which produces the protein dystrophin, is located on the X chromosome. If the offspring is male and the female is a carrier, or both parent's X chromosomes have the mutation, the offspring will have the condition.]]> 2018-04-04 22:14:49 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/248694561 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/248697954 Duchenne Syndrome was first described by French neurologist Guillaume Benjamin Amand Duchenne in 1860's. But, because of little known information about the cause and the condition itself until the 1980's(little was known about the human genome was known at this time as well). In 1986,  researchers identified the DMD gene, which causes Duchenne Syndrome. Later in 1987 the protein Dystrophin was found, named, and deemed the cause of Duchenne Syndrome.]]> 2018-04-04 22:41:55 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/248697954 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103567 2018-04-06 03:36:28 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103567 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103726 Diagnosis may occur when young males (3 - 5 years old) are showing muscle weakness or developmental delays. Methods for DMD diagnosis include:

Muscle Biopsy(taking a sample of the muscle).

Genetic testing(looking at the body's genetic instructions.

These, and a combination of clinical findings, family history, and Dystrophin levels confirm the diagnosis. ]]> 2018-04-06 03:38:03 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103726 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103730 2018-04-06 03:38:07 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103730 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103804 Today, scientists are researching many possible solutions to Duchenne Syndrome. In the past few years, drugs to lessen symptoms and prevent further muscle deterioration have been approved by the FDA, creating treatment options for DMD victims for the first time. 
But, over 209 million dollars has been funded for DMD research, and recently, great steps have been made for treatment options such as Gene Therapy, Exon Skipping, Stop Codon Read-Through, and Gene Repair.

Because of this research, DMD patients are living till their 50's, whereas the past life expectancy was 20 - 25 years.]]> 2018-04-06 03:38:57 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249103804 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249104349 "For gene therapy in DMD, a primary goal is to deliver a replacement copy of the dystrophin gene. Scientists hope that by introducing a functional dystrophin gene, gene therapy may offer a more permanent benefit than other therapies, but they are quick to caution that gene therapy for DMD is unlikely to completely halt or reverse the disease."
- Muscular Dystrophy Association on gene therapy ]]> 2018-04-06 03:44:19 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249104349 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249104813 Exon Skipping is the idea that bad genes, or exons, are skipped over through splicing. This creates a shorter but function DMD gene, hopefully lessening symptoms]]> 2018-04-06 03:48:45 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249104813 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249105774 The transplantation of normal genes into cells in place of missing or defective ones in order to correct genetic disorders.]]> 2018-04-06 03:59:37 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249105774 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106372 2018-04-06 04:06:28 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106372 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106413 Gene Repair is a technique used to correct a mutation at a specific site in an episome or chromosome. It uses synthetic oligonucleotides together with the cell's inherent DNA repair system to direct single base pair changes.]]> 2018-04-06 04:06:46 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106413 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106888 2018-04-06 04:11:27 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249106888 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249107634 Google.com / Google Images
MDA.org
Genome.gov
Nature.com
Academic.oup.org
https://thetab.com/us/usc/2016/10/14/duchenne-mucsular-dystrophy-2436
http://www.parentprojectmd.org/site/PageServer?pagename=Care_elements_family

]]> 2018-04-06 04:18:18 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249107634 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249109434 "Any strenuous exercise (running, lifting, even just stair-climbing) is enough to tear the cellular membrane, leading to my muscles breaking down and never being able to repair themselves. So coping with the disease is a combination of conserving energy, taking supplements and steroids that help reduce inflammation and retain muscle strength."
- Hawken Miller, DMD patient

Once diagnosed with Duchenne's, physical options for the paitent are very limited. Although there is some Dystrophin left in the body, there is nowhere near enough to keep muscle cells intact. Any exercise or excessive muscle movement may cause what little cell attachment remaining to break, causing damage that cannot be repaired.

As a result, living with DMD is very limiting. As patients grow older, slowly possible activities become more limited. Then, patients are limited to a wheelchair, and very few actions are even possible.

PSA video:]]> 2018-04-06 04:34:50 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249109434 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249109449 Even though there are some drugs preserving dystrophin levels and muscle formation, Duchenne's is a terminal condition, and eventually the body nor medication will be able to stop the muscle degeneration.

However, not using muscles as much and preserving the little dystrophin in the muscle helps to keep muscles intact for longer periods of time.]]> 2018-04-06 04:34:59 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249109449 dylan_brandt477 https://padlet.com/dylan_brandt477/FixDuchennes/wish/249111490 Below is the listed contact information for a DMD family support group:]]> 2018-04-06 04:59:41 UTC https://padlet.com/dylan_brandt477/FixDuchennes/wish/249111490