Para información completa en español, haga clic en la bandera.

MFLAG.png
Español

Who are we?

Ariel and Enrique Nájera the reason behind this foundation.

We are a blended family and together we have 4 kids, Lulu 23 yrs old, Rebekah 9, Ariel and Enrique

(fraternal twins, also 9 yrs old, both diagnosed with Duchenne Muscular Dystrophy since 2016 ), since our journey in search of the best possibilities for our boys we noticed a lack of information and support to low-income families and language barriers. With our background in the marketing and entertainment field, we are determined to create the first bilingual web site specialized in Duchenne Muscular Dystrophy where you will find all kinds of information and developments of the disease in Spanish & English.

We are a 501c3 non-profit organization.

Luisa Leal & Jorge Najera

Founder of The Akari Foundation

girl-doing-thumbs-up-gesture.jpg

MISION

Connect families with different abilities with resources, connections & information, create a bilingual support and education website.

What is Muscular Dystrophy Duchenne?

DMD

Duchenne muscular dystrophy, sometimes shortened to DMD or just Duchenne, is a rare genetic disease. It primarily affects males, but, in rare cases, can also affect females. Duchenne causes the muscles in the body to become weak and damaged over time, and is eventually fatal. The genetic change that causes Duchenne — a mutation in the DMD gene — happens before birth and can be inherited, or new mutations in the gene can occur spontaneously.                

 The cause of Duchenne 
 
Duchenne is caused by a genetic mutation that prevents the body from producing dystrophin, a protein that muscles need to work properly. Without dystrophin, muscle cells become damaged and weaken. Over time, children with Duchenne will develop problems walking and breathing, and eventually the muscles that help them breathe and the heart will stop working. Duchenne is an irreversible, progressive disease. There is currently no cure for Duchenne.    
What happens in Duchenne?
 
Duchenne is caused by mutations to the dystrophin gene. Most commonly, one or more exons (a portion of the gene) are missing, and the remaining exons don’t fit together properly. Because of this error in the genetic instructions, cells cannot make dystrophin, a protein muscles need to work properly. Without dystrophin, muscle cells are damaged, and, over time, are replaced with scar tissue and fat in a process called fibrosis.Types of mutations include:Large deletions: One or more exons are missing from the dystrophin gene
  • Large duplications: One or more exons have extra copies in the dystrophin gene
  • Other changes: Small changes, such as tiny deletions or changes in a single letter in the instructions
  • 72% large deletions
  • 7% large duplications
  • 20% other                                                                                                                       
  • The most common mutation in people with Duchenne is a deletion of one or more exons. Much like a puzzle, these missing pieces prevent the remaining exons from fitting together properly.This causes errors in the instructions for making dystrophin, and the body is not able to produce a working dystrophin protein.When exons do not fit together Dystrophin protein  cannot be created
 
The first signs and symptoms of Duchenne are often noticed around the age of 2 or 3. Children with Duchenne may be slower to sit, stand or walk. Most are unable to run and jump properly due to weakness in the core muscles of the body.
Common signs and symptoms of Duchenne you may notice:
  • Not walking until approximately 18 months of age
  • Walking on toes with legs apart, walking with the belly pointed out, or both
  • Falling down often
  • Needing help getting up from the floor or using arms to “walk” the body to a standing position (Gower’s maneuver)
  • Larger calves than other children of the same age or size
  • Fatigue
  • Behavior and learning problems
  • Delayed speech
Duchenne's effect on the brain
  • Children with Duchenne are more likely to have conditions affecting the brain, such as mental health, learning, or seizure disorders. The key protein for muscle function that is missing in Duchenne, dystrophin, is also believed to have a role in brain development. In children with Duchenne, the lack of dystrophin is believed to affect the ability of certain brain cells, called neurons, to connect properly and share information
  • This can lead to challenges with important brain functions such as attention, memory, learning, speech, and intellectual ability
  • A higher risk of ADHD, ASD, and OCD
  • Children with Duchenne are more likely to have such conditions as attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorders (ASD), learning disorders such as dyslexia, and obsessive-compulsive disorder (OCD)
  • In addition, abnormal electrical activity in the brain makes children with Duchenne more prone to developing epilepsy (seizures)
Duchenne by the numbers
  • One of the most serious genetic diseases in children worldwide
  • Occurs in 1 in 3,500 to 5,000 males born worldwide     
  • Duchenne muscular dystrophy usually affects males. However, females are also affected in rare instances. Approximately 8% of female Duchenne muscular dystrophy (DMD) carriers are manifesting carriers and have muscle weakness to some extent.                                 
  • 5 is the Average age of diagnosis      
  • Time from initial symptoms to diagnosis is 2.5 years     
  • More than 90% in wheelchairs by age 15              
  • One of more than 30 forms of muscular dystrophy    
SOURCE:  Sarepta Therapeutics
How is Muscular Dystrophy Diagnosed?

Muscular dystrophy (MD) is diagnosed through a physical exam, a family medical history, and tests. These might include:

  • A muscle biopsy (the removal and exam of a small sample of muscle tissue)

  • DNA (genetic) testing

  • Electromyography or nerve conduction tests (which use electrodes to test muscle and/or nerve function)

  • Blood enzyme tests (to look for the presence of creatine kinase, which reveals deterioration of muscle fibers)

For Duchenne and Becker muscular dystrophies, muscle biopsy may show whether dystrophin, a muscle protein, is missing or abnormal, and DNA testing is used to analyze the condition of the related gene. Genetic testing also is available for some forms of muscular dystrophy.

What Are the Treatments for Muscular Dystrophy?

There is no cure for any form of muscular dystrophy, but medications and therapy can slow the course of the disease. Human trials of gene therapy with the dystrophin gene are on the near horizon. For instance, scientists are researching ways to insert a working dystrophin gene into the muscles of boys with Duchenne and Becker muscular dystrophies.

Researchers are investigating the potential of certain muscle-building medicines to slow down or reverse the progression of muscular dystrophy. Other trials are looking into the effects of the dietary supplements creatine and glutamine on muscle energy production and storage.

Conventional Medicine for Muscular Dystrophy

Symptoms often can be relieved through exercisephysical therapy, rehabilitative devices, respiratory care, and surgery:
Conventional Medicine for Muscular Dystrophy
Symptoms often can be relieved through exercisephysical therapy, rehabilitative devices, respiratory care, and surgery:
  • Exercise and physical therapy can minimize abnormal or painful positioning of the joints and may prevent or delay curvature of the spine. Respiratory care, deep breathing, and coughing exercises are often recommended.
  • Canes, powered wheelchairs, and other rehabilitative devices can help those with MD maintain mobility and independence.
  • Surgery can sometimes relieve muscle shortening. In Emery-Dreifuss and myotonic muscular dystrophy, it's often necessary to surgically implant a cardiac pacemaker.
In some cases, disease progression can be slowed or symptoms relieved with medication:
  • In Duchenne muscular dystrophy, corticosteriods may slow muscle destruction.
  • The oral corticosteroid deflazacort (Emflaza) was approved in 2017 to treat DMD. Deflazacort has been found to help patients retain muscle strength as well as helping them maintain their ability to walk. Common side effects include puffiness, increased appetite and weight gain.
  • In myotonic muscular dystrophy, phenytoin and mexiletine (Mexitil) can treat delayed muscle relaxation.
Medications also can be prescribed for some muscular dystrophy-related heart problems.
Can You Prevent Muscular Dystrophy?
If you have a family history of muscular dystrophy, you may want to consult a genetic counselor before having children. The odds of passing the disease on to your children range from 25% to 50%. Carriers -- typically sisters and mothers of those with MD -- usually don't have the disease, but they may exhibit mild symptoms that give hints of it. They can pass the disease on to their children; their sons will get the disease and half the time, their daughters become carriers. For Duchenne and Becker muscular dystrophies, protein and DNA tests can identify carriers, and DNA probes can provide prenatal diagnosis. Tests for carriers of other forms of muscular dystrophy are under development.
WEBMD
WebMD Medical Reference Reviewed by William Blahd, MD on April 09, 2017
Sources
© 2017 WebMD, LLC. All rights reserved.
​​​
San Antonio,Texas

Contact us 

Address:

1113 E. Houston Street

San Antonio Tx 78205

Office (210) 538-4741

Email: 

Info@TheAkariFoundation.org

  • Facebook Social Icon
  • instagram-icon_1057-2227
  • Twitter Social Icon

The Akari Foundation is a 501c3 registered and tax-exempt non-profit organization.

A non-profit organization for children with Duchenne Muscular Dystrophy

  • Blanco Icono de YouTube
  • Blanco Icono de Instagram
  • Blanco Icono LinkedIn
  • Blanca Facebook Icono

La Fundación Akari es una organización sin fines de lucro registrada con el número 501c3 y exenta de impuestos.

Una organización sin fines de lucro para niños con Distrofia Muscular de Duchenne