Muscular Dystrophy

CRISPR Research Might Lead to Cure for Duchenne Muscular Dystrophy

Muscular Dystrophy | Johns Hopkins Medicine

At this time, there is no cure for Duchenne muscular dystrophy (DMD), although there is one treatment for a subgroup of the disease.

That is Sarepta Therapeutics Exondys 51 for DMD patients with a confirmed mutation amenable to exon 51 skipping. Recently the U.S.

Food and Drug Administration (FDA) rejected Sarepta’s golodirsen for DMD with a confirmed mutation appropriate for exon 53 skipping.

DMD is a muscle wasting disease caused by mutations in the dystrophin gene. It is a progressive disease that usually causes death in early adulthood, with serious complications that include heart or respiratory-related problems. It mostly affects boys, about 1 in every 3,500 or 5,000 male children.

There just might be, however, hope for an actual cure.

Researchers at the University of Missouri-Columbia, utilized CRISPR gene editing in a mouse model, to edit out the gene mutation and transplant AAV9 treated muscle into the mice.

The transplanted muscle cells carried the edited gene and successfully produced dystrophin, the protein that is not produced in sufficient quantities in DMD patients.

The dystrophin gene is the largest in the body, and codes for the dystrophin protein, which is involved in muscle development and activity.

One of the reasons DMD has been a tough nut to crack is that because of the gene’s size, it’s too large to fit into the typical viral vectors used in gene therapies.

That’s partially why Sarepta’s approach is to use a type of RNA splicing that forces cells to “skip” over the faulty section of genetic code. This results in a shortened (truncated) protein that is still functional.

“Research has shown that CRISPR can be used to edit out the nutation that causes the early death of muscle cells in an animal model,” said Dongsheng Duan, the Margaret Proctor Mulligan Professor in Medical Research in the Department of Molecular Microbiology and Immunology at the MU School of Medicine and senior author of the study.

“However,” Duan went on, “there is a major concern of relapse because these gene-edited muscle cells wear out over time.

If we can correct the mutation in muscle stem cells, then cells regenerated from the edited stem cells will no longer carry the mutation.

A one-time treatment of the muscle stem cells with CRISPR could result in continuous dystrophin expression in regenerated muscle cells.”

Duan’s research, in collaboration with others at MU as well as the National Center for Advancing Translational Sciences, Johns Hopkins School of Medicine and Duke University, looked at whether muscle stem cells in mice could be effectively edited.

They used AAV9, an adeno-associated virus recently approved by the FDA to treat spinal muscular atrophy (SMA)—Novartis’ Zolgensma, which is also the source of the controversy over the company’s data manipulation scandal.

They started by delivering CRISPR to normal mouse muscle via AAV9.

“We transplanted AAV9-treated muscle into an immune-deficient mouse,” said Michael Nance, an MD-PhD program student in Duan’s lab and the lead author of the paper. “The transplanted muscle died first then regenerated from its stem cells. If the stem cells were successfully edited, the regenerated muscle cells should also carry the edited gene.”

That appeared to work. They then tested if the muscle stem cells in the mice of DMD could be edited with CRISPR—they were.

“This finding suggests that CRISPR gene editing may provide a method for lifelong correction of the genetic mutation in DMD and potentially other muscle diseases,” Duan said.

“Our research shows that CRISPR can be used to effectively edit the stem cells responsible for muscle regeneration.

The ability to treat the stem cells that are responsible for maintaining muscle growth may pave the way for a one-time treatment that can provide a source of gene-edited cells throughout the patient’s life.”

The research was published in the journal Molecular Therapy.


Johns Hopkins Gazette | February 5, 2007

Muscular Dystrophy | Johns Hopkins Medicine
Researchers at Johns Hopkins have shown that a drug commonly used to lower blood pressure reverses muscle wasting in genetically engineered mice with Marfan syndrome and also prevents muscle degeneration in mice with Duchenne muscular dystrophy. The results are reported online on Jan. 21 at Nature Medicine.

In 2006, a team led by Harry “Hal” Dietz discovered that treating Marfan mice with losartan (Cozaar) dramatically strengthens the aorta, the major artery carrying blood away from the heart, and prevents enlargement and risk of bursting, a condition known as aortic aneurysm.

A clinical trial to assess how effective losartan is for treating people with Marfan will launch within weeks.

“In addition to the aortic defect, children with severe Marfan syndrome often have very small, weak muscles, and adults with Marfan often can't gain muscle mass despite adequate nutrition and exercise,” explained Dietz, a professor at the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins School of Medicine.

Dietz and his colleagues had previously discovered that many features of Marfan syndrome, including aortic aneurysm, arise from excess activity of TGF-beta, a protein that instructs cell behavior.

Marfan mice have muscles containing much scar tissue between unusually small muscle fibers, which also show evidence of too much TGF-beta activity.

Dietz's team reasoned that blocking the activity of TGF-beta might restore normal muscle structure and function.

First, the research team injected Marfan mice with a protein that binds TGF-beta and renders it inactive. This TGF-beta-blocking protein caused muscle fibers in these mice to grow bigger than those in untreated Marfan mice. “Not only did the muscles look bigger and better under the microscope,” Dietz said, “the mice were also stronger and showed reduced fatigue.”

The team then treated Marfan mice with losartan, a medication known to be safe in treating hypertension in all age groups and, more importantly, known to block TGF-beta activity. Losartan treatment over six months “completely restored muscle architecture” and vastly improved strength, Dietz said.

Further study pinpointed how too much TGF-beta activity leads to this weakened muscle architecture. According to Ronald Cohn, lead author on this study, normal muscle, by mobilizing muscle stem cells, can repair itself after injury.

The team discovered that excessive TGF-beta blocks muscle regeneration and repair. “The simplest things can injure muscle,” said Cohn, an assistant professor of pediatrics and neurology at Johns Hopkins.

“Running a mile down the street causes microscopic tears in leg muscles which normally go unnoticed because muscles are so efficient at repairing themselves.”

Dietz's team then wondered whether the muscle improvement from blocking TGF-beta was specific to Marfan syndrome or possibly represented a strategy that could be applied to other muscle diseases such as Duchenne muscular dystrophy, or DMD.

Duchenne muscular dystrophy, the most common form of incurable muscular dystrophy in children, generally leads to death in early adulthood or before. DMD causes muscle fibers to be incredibly fragile.

As persons with DMD age, their muscles slowly lose the ability to regenerate and repair, leading to loss of muscle function, Cohn said.

TGF-beta never had been implicated as a cause of the inability to repair muscle in DMD, so the researchers examined muscles from mice genetically engineered to have DMD and found evidence of increased TGF-beta activity.

The team treated one group of DMD mice with TGF-beta-blocking protein and another with losartan. Both groups of treated mice showed completely restored ability to regenerate muscle after injury, whereas untreated mice had large patches of scar tissue in place of muscle. Losartan treatment over many months preserved muscle architecture “over the long haul,” Dietz said.

The team then measured muscle strength of untreated DMD mice as well as mice treated for nine months with losartan by connecting the muscles to tiny “force meters” that measured contraction after an electrical stimulus. While the untreated DMD muscles were “very weak,” according to Dietz, losartan-treated DMD muscles were “indistinguishable” from normal muscles in how strongly they contracted.

Said Cohn, “We may have a real treatment alternative for a fatal disease — Duchenne muscular dystrophy — that improves both length and quality of life.”

“For so many reasons, we're excited about these studies and their potential to transform the care of patients with both Marfan syndrome and Duchenne muscular dystrophy,” Dietz said.

“First, this treatment strategy comes from understanding the basic science, the molecular underpinnings of the disease. Second, the treatment has worked exceptionally well in animal models.

Third, we are not dealing with a mysterious compound that was simply pulled off the shelf — losartan has already been proven safe,” Dietz said.

“Furthermore,” Cohn said, “losing the ability to regenerate muscle over time is seen in many inherited and acquired muscle diseases and is even part of the normal aging process. We may only be seeing the tip of the iceberg.”

Losartan, first approved in 1995 for use as a blood pressure medication by the U.S. Food and Drug Administration, often is used as an alternative to other antihypertensive drugs in people who cannot tolerate other blood pressure medicines.

The research was funded by the Howard Hughes Medical Institute, the National Institutes of Health, the Smilow Center for Marfan Syndrome Research, the Dana and Albert “Cubby” Broccoli Center for Aortic Diseases and the National Marfan Foundation.

Authors on the paper are Cohn, Christel van Erp, Jennifer Habashi, Arshia Soleimani, Erin Klein, Matthew Lisi, Matthew Gamradt, Colette ap Rhys, Tammy Holm, Bart Loeys, Daniel Judge and Dietz, all of Johns Hopkins; Christopher Ward, of the University of Maryland; and Francesco Ramirez, of the University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School.


Katherine (Kathy) Wilson, Ph.D

Muscular Dystrophy | Johns Hopkins Medicine

Crews DC, Wilson KL, Sohn J, Kabacoff CM, Poynton SL, Murphy LR, Bolz J, Wolfe A, White PT, Will C, Collins C, Gauda E, Robinson DN*. Helping scholars overcome socioeconomic barriers to medical and biomedical careers: Creating a pipeline initiative.  Teach. Learn. Med. 2020; 1-12. DOI: 10.1080/10401334.2020.1729161. 

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Wilson KL (2018) Nuclear import pathway key to rescuing dominant progerin phenotypes. Science Signaling 11(537). pii: eaat9448  

Simon DN, Wriston A, Florwick A, Fan Q, Dharmaraj T, Shabanowitz J, Peterson SB, Gruenbaum Y, Carlson CR, Gronning-Wang LM, Hunt DF and Wilson KL (2018) OGT (O-GlcNAc transferase) selectively modifies multiple residues unique to lamin A. Cells 7:44 

Dharmaraj T and Wilson KL. (2017). How chromosomes unite. Nature 551:568-569.

Florwick A, Dharmaraj T, Jurgens J, Valle D, Wilson KL. 2017.  LMNA sequences of 60,706 unrelated individuals reveal 132 novel missense variants in A-type lamins and suggest a link between variant p.G602S and Type 2 Diabetes. Front Genet. Jun 15;8:79. doi: 10.3389/fgene.2017.00079. eCollection 2017.

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Berk JM and Wilson KL. (2016). Simple separation of functionally distinct populations of lamin-binding proteins. Methods Enzymol. 569:101-114.

Mojica SA, Hovis KM, Frieman MB, Tran B, Hsia RC, Ravel J, Jenkins-Houk C, Wilson KL, Bavoil PM (2015) SINC, a type III secreted protein of Chlamydia psittaci, targets the inner nuclear membrane of infected cells and uninfected neighbors. Molecular Biology of the Cell 26:1918-1934.

Berk JM, Simon DN, Jenkins-Houk CR, Westerbeck JW, Gronning-Wang LM, Carlson CR, Wilson KL (2014) The molecular basis of emerin-emerin and emerin-BAF interactions. J. Cell Science 127:3956-3969. 

Bar DZ, Davidovich M, Lamm AT, Zer H, Wilson KL and Gruenbaum Y (2014) BAF-1 mobility is regulated by environmental stresses. Molecular Biology of the Cell 25:1127-36. PMC3967975

Berk JM, Tifft KE and Wilson KL. (2013) The nuclear envelope LEM-domain protein emerin. Nucleus 4:1-17. 

Berk JM, Maitra S, Dawdy AW, Shabanowitz J, Hunt DJ and Wilson KL. (2013) O-GlcNAc regulates emerin binding to BAF in a chromatin- and lamin B-enriched ‘niche’. J. Biological Chemistry 288:30192-209.

Simon DN and Wilson KL. (2013) Partners and posttranslational modifications of nuclear lamins. Chromosoma 122:13-31. 

Wozniak M, Baker BM, Chen C and Wilson KL. (2013) Emerin-binding transcription factor Lmo7 is regulated by association with p130Cas at focal adhesions. PeerJ e134

Simon DN, Domaradzki T, Hofmann WA and Wilson KL. (2013) Lamin A tail modification by SUMO1 is disrupted by familial partial lipodystrophy-causing mutations. Molecular Biology of the Cell 24:342-50.

Barkan R, Zahand AJ, Sarabi K, Lamm AT, Feinstein N, Haithcock E, Wilson KL, Liu J and Gruenbaum Y. (2012) Ce-emerin and LEM-2: essential roles in Caenorhabditis elegans development, muscle function and mitosis. Molecular Biology of the Cell 23:543-552. 

Gjerstorff MF, Rösner HI, Pedersen CB, Greve KB, Schmidt S, Wilson KL, Mollenhauer J, Besir H, Poulsen FM, Møllegaard NE and Ditzel HJ. (2012) GAGE cancer-germline antigens are recruited to the nuclear envelope by germ cell-less (GCL). PloS One 7:e45819.

Simon DN and Wilson KL. (2011) The nucleoskeleton as a dynamic genome-associated ‘network of networks.’ Nature Reviews Mol. Cell. Biol. 12:695-708.

Montes de Oca RM, Andreassen PR and Wilson KL. (2011) Barrier to Autointegration Factor influences specific histone modifications. Nucleus 2:580-590. 

Wilson KL and Dawson SC. (2011) Functional evolution of nuclear structure. J Cell Biology 195:171-181.

Wilson KL and Berk JM. (2010) The nuclear envelope at a glance. J Cell Science 123:1973-1978. 

Simon DN, Zastrow MS, Wilson KL. (2010) Direct actin binding to A- and B-type lamin tails and actin filament bundling by the lamin A tail. Nucleus 1:264-272. 

Tifft KE, Bradbury KA and Wilson KL. (2009) Tyrosine phosphorylation of nuclear membrane protein emerin by Src, Abl and other kinases. J Cell Science 122:3780-3790. 

Montes de Oca R, Shoemaker CJ, Gucek M, Cole RN and Wilson KL. (2009) Barrier to Autointegration Factor proteome reveals chromatin-regulatory partners. PLoS One e7050. 

Holaska JM and Wilson KL. (2007) An emerin ‘proteome’: purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing and nuclear architecture. Biochemistry 46, 8897-908. 

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Becker Muscular Dystrophy

Muscular Dystrophy | Johns Hopkins Medicine

Linkedin Pinterest Genetic Disorders What You Need to Know

  • Becker muscular dystrophy is similar to Duchenne muscular dystrophy and is characterized by progressive muscle weakness. However, Becker muscular dystrophy is less common than Duchenne muscular dystrophy and is associated with milder clinical symptoms.
  • Duchenne muscular dystrophy, Becker muscular dystrophy is a genetic condition that affects mostly males.
  • Becker muscular dystrophy symptoms usually show up in a person’s teens or early adult years. Its course is slower than that of Duchenne’s and can be harder to predict.
  • Becker muscular dystrophy is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes. People with Becker muscular dystrophy produce more dystrophin than those with Duchenne muscular dystrophy.
  • The condition is named for the German physician Peter Emil Becker, who first described this variant of muscular dystrophy in the 1950s.

Becker muscular dystrophy signs and symptoms show up in patients during their teens or young adult years.

As with the more serious Duchenne muscular dystrophy, the pattern of muscle weakening and wasting commonly begins in the hip and pelvis areas, and then progresses to the thighs and shoulders.

As muscles weaken, patients may notice changes when they participate in physical activities and sports. This weakness can cause a change in gait. Individuals affected with Becker muscular dystrophy may begin to waddle, walk on their toes or push their abdomen forward when walking to maintain balance and compensate for lack of strength in the hips and legs. 

What are the risk factors of Becker muscular dystrophy?

Becker muscular dystrophy is a genetic disease caused by a gene on the X chromosome that mothers carrying the gene can pass to their sons.

How is Becker muscular dystrophy diagnosed?

Diagnosing Becker muscular dystrophy is complicated, since it shares so many symptoms with other conditions including Duchenne, limb-girdle muscular dystrophy and spinal muscular atrophy.

The challenge is to determine whether the weakness is originating in the muscles themselves or in the motor neurons (branching from the spinal cord), which control these muscles.

A careful physical and history of signs and symptoms is the first step so the doctor can note the pattern of progression. Diagnostic tests for Becker muscular dystrophy include:

Blood tests: Genetic blood tests can reveal the gene mutation responsible for Becker muscular dystrophy. They can also measure the presence of creatine kinase, an enzyme that forms when muscle tissue breaks down. This substance is elevated in muscular dystrophy and inflammatory conditions.

Muscle biopsy: For those children who have clinical evidence of Duchenne muscular dsytrophy but who do not show one of the common mutations, a small sample of muscle tissue is taken and examined under a microscope to confirm the diagnosis.

Electromyogram: This test checks to see if the muscle weakness is a result of destruction of muscle tissue rather than nerve damage.

Electrocardiogram (ECG or EKG): A test that records the electrical activity of the heart, an ECG shows abnormal rhythms (arrhythmias or dysrhythmias) and detects heart muscle damage.

The heart comprises mostly muscle, and therefore it is affected by muscular dystrophy. Becker muscular dystrophy can cause cardiomyopathy, a weakening of the heart muscles, which, if unaddressed, can lead to heart failure and the need for a transplant.

Becker Muscular Dystrophy Treatment

There is not a cure for Becker muscular dystrophy at present. A doctor may prescribe steroid medications to help individuals remain able to walk for as long as possible.

The clinical course of Becker muscular dystrophy is variable. Some people may require a wheelchair by the time they reach their 30s; others may be able to continue walking with or without a cane for many years.

A multidisciplinary team of specialists with experience in treating Becker muscular dystrophy can help address symptoms:

  • Physical and occupational rehabilitation professionals can design exercise programs and teach stretching activities to minimize contractures, which are hardened or deformed joints caused by contracting muscles and tendons.
  • Orthopaedic surgeons with expertise in muscular dystrophy can treat contractures and scoliosis.
  • Cardiologists track the patient’s heart function with EKGs and echocardiograms.


Duchenne Muscular Dystrophy: Facilitator’s Guide

Muscular Dystrophy | Johns Hopkins Medicine

Throughout this curriculum, participants will:

  1. Develop an understanding of pediatric palliative care principles and their relevance in the context of pediatric neuromuscular disease (NMD) with a particular focus on Duchenne Muscular Dystrophy (DMD).
  2. Strengthen their understanding of the value and purpose of an interdisciplinary team approach to the integration of pediatric palliative care principles and practices in the context of DMD.
  3. Explore creative strategies for enhancing the comprehensive and holistic care of children and families affected by DMD.
  4. Evolve strategies for encouraging reflective practice among participants.
  5. Become knowledgeable about the range of educational and clinical resources currently available in pediatric palliative care and DMD.
  6. Explore networking opportunities with other professionals and family members to address mutual needs and interests with regard to improving the quality of life for children and families affected by DMD.

“Let me keep my mind on what matters, which is my work, which is mostly standing still and learning to be astonished.”~Mary Oliver

To create an atmosphere of safety and trust in order to facilitate conversation in your training session, it is important to set-up expectations for participants to provide positive feedback and support. The following “Responsibilities for Collaborative Learning” may be provided to frame the training event.

Responsibilities for Collaborative Learning

As a participant in the collaborative learning process, we ask that you:

  • Contribute to creating an atmosphere of trust and respect. Promote the spirit of collaborative learning among all participants.
  • Listen attentively. Create a climate in which participants feel comfortable sharing personal thoughts, reflections, and feelings.
  • Be clear and concise when sharing thoughts and ideas. Maintain necessary time boundaries in group discussions.
  • Create space for “quiet voices” to have room for expression.
  • Be respectful of the personal, professional, and cultural frame of reference of other participants.
  • Act according to the guiding ethic that there is rarely only one “right” answer in any discussion. The greatest learning is ly to occur when multiple and different perspectives (medical, nursing, family, psychosocial, spiritual) are shared in respectful dialogue among participants.
  • Offer personal thoughts and ideas as one option among several. Acknowledge alternate ways to view the same situation.
  • Use discretion in regard to personal information that has been shared.
  • Engage fully in all sessions.

General Guidelines for Facilitating Small Groups

Each small group is organized around the viewing of a film or engaging in an experiential exercise followed by group discussion. At the outset of each small group, it may be helpful for the facilitator to set a few ground rules for the discussions:

  • Convey the message to participants that there is no right response, and that the group’s discussion will be more valuable if there are a variety of views and perspectives.
  • Invite people to engage within their sphere of comfort. It is possible that some of the film and curricular content can evoke positive and negative feelings. The purpose of the curricula is to surface these within each person’s comfort zone. Each person should be mindful of their own needs and boundaries for involvement.
  • Participants are invited to notice their responses to the films and discussions by monitoring their bodies, emotions and thoughts as clues for further investigation individually and collectively.
  • Remind participants that all opinions should be treated in a respectful manner, and effort should be made to include as many voices as possible. (If one or two individuals begin to dominate the discussion, make a comment about the value of hearing from as many people as possible.)
  • Explain that if individuals choose to share on a personal level, their comments should not be repeated in other settings.
  • Strongly encourage participants to arrive on time and stay for the duration of the seminar. Late arrivals and disruptions in the group will negatively affect the educational experience.

About the Films:

  • Clarify that the film segment is not a case study to be analyzed or interpreted, but rather family stories that are provided to stimulate group reflection and discussion about clinical and organizational practice.
  • The film segments include positive as well as critical comments about health care professionals. It is important to establish an atmosphere in which “mistakes” or negative behaviors on the part of practitioners are viewed as constructive learning opportunities for all participants, and not as a judgment about any single professional discipline or behavior.
  • These films, while created at Johns Hopkins Hospital, are not about care at Johns Hopkins. These are films about (non-clinical) aspects of patient care (e.g., quality of life, communication, ethics) provided to young people with DMD and their families. The films are not meant to suggest a standard of care but rather to explore some of the prominent issues that arise from conversations with patients and families.
  • Our hope is that the themes that arise during the training will be common across spectrums of care for adolescents with these diseases. We recognize that the stories in these films do not necessarily reflect the perspectives and experiences of all patients and families. We chose these particular patients and families to elicit certain emotional responses and to explore specific aspects of pediatric palliative care. We invite you to watch these as they are meant to be: films to help clinicians see things from the perspective of a select group of patients and families. Notice if you find yourself wanting to debate the justification for the care these patients are receiving. If you find yourself going in this direction, pause and redirect your focus back to questions that are associated with each module.


Prepare: In preparation for facilitating this workshop, review these materials. Give careful attention to the questions you feel are the most important messages conveyed in each film. You may not be able to get through all of the suggested questions below, use the energy of the group as a guide about the direction of content and the needs of the group.

Resources and References: Familiarize yourself with the professional literature included in the Resources and References handout. Refer to these items when appropriate in group discussion.

Each participant will receive a Related References list to additional resources which they can obtain on-line through our Vision of Hope blog (this information is contained on the resource list.

) Please remind group members of the references list and encourage them to review additional resources on their own time.

Basic Outline of Small Group Sessions:

  1. Introductions, checking-in, or de-briefing plenary (~5 – 10 minutes)
  2. Show trigger film (~7 minutes)
  3. Create a space for refection—Invite participants to look inside themselves by being quiet and writing about their personal reflections on each film (~2 minutes)
  4. Discussion (~60 – 75 minutes)
  5. Application to self and home institution (~5-15 minutes)

Leading the Session:

Begin the session by conveying the following introductory concepts:

In this seminar, we are going to explore…. We will watch a film segment that presents…. The videotape is approximately 7-9 minutes long. The remainder of the session will be devoted to discussion organized around focused questions.

  • Review the learning objectives with participants.
  • Play the videotape segment.
  • As you proceed with the discussion questions, read each one aloud and then invite discussion.

Preparing to Lead/Planning your Training Module

Print: This Facilitator’s Guide in its entirety, including the participant handouts that appear at the end.


  • The “General Guidelines for Facilitating Seminars,” which appear below.
  • This Facilitator’s Guide in its entirety, including attachments.
  • The corresponding film and/or Powerpoint segment

Arrange for:

  • A registration process to determine how many people will attend the seminar.
  • A room large enough for the number of registered participants, set up around a table or in such a way that participants are facing each other.
  • A DVD player, television monitor, flipchart, and markers. Check to determine that the equipment is working properly.


  • A copy for each participant of the handouts and resources that appear at the end of this module
  • “Seminar Learning Objectives and Discussion Questions”


  • In preparation for facilitating this workshop, give yourself ample time to view the film, review these materials, and think about whether the material should be adapted in any way for the particular audience with whom you are working.
  • Give careful attention to what you feel are the most important messages conveyed by the film and/or Powerpoint presentation.

Leading the Session:

  • Distribute the “Learning Objectives and Discussion Questions” handout.
  • Review the learning objectives with participants.
  • Play the film or Powerpoint segment.
  • As you proceed with the discussion questions, read each one aloud and then invite discussion. (Notes to facilitators are indicated by “Facilitator Note” superscript link.)

Additional Resources and Materials

This activity is re-printed or adapted here with permission of: The Initiative for Pediatric Palliative Care ( Copyright 2003 Education Development Center, Inc.



Muscular Dystrophy

Muscular Dystrophy | Johns Hopkins Medicine

Linkedin Pinterest Genetic Disorders

Muscular dystrophy (MD) is a disorder that slowly weakens muscles. Over time, a child’s muscles break down. They are replaced with fatty tissue. MD can make movements walking and standing up hard to do. It may even cause deformities in the joints.

MD is a genetic disorder. That means it is inherited. Children with a family history of the condition are more ly to have it.

MD is divided into 9 types. Some types don’t develop until a child becomes an adult. Others cause symptoms early in life. Children are usually diagnosed with the disorder between 3 and 6 years old. The most common types to affect children are called Duchenne muscular dystrophy and Becker muscular dystrophy.

Symptoms of muscular dystrophy

Children with MD often have movement problems when they are young. They may start to walk later than normal. They may have trouble getting up from a sitting or lying position. Weakness in the shoulders and pelvic muscles is an early symptom.

Children may also have these other common symptoms of the disorder:

  • Clumsiness
  • Problems climbing stairs
  • Trouble jumping or hopping
  • Frequent tripping or falling
  • Walking on their toes
  • Leg pain
  • Weakness in the face, shoulder, and arms
  • Inability to open or close the eyes
  • Large calves from fat buildup

As MD progresses, a child may have heart or lung problems. He or she may also have scoliosis. Scoliosis is a condition that causes the spine to curve. A child with scoliosis may look he or she is leaning to one side.

Diagnosing muscular dystrophy

MD may look other health problems. To diagnose it, your child’s doctor first does a physical exam. He or she may also ask about your child’s medical history. A genetic blood test may help diagnose the disorder along with other blood tests.

Other tests that may confirm MD include:

  • Muscle biopsy. A sample of muscle is looked at under a microscope.
  • Electromyogram. This test can find out if there is breakdown of muscle tissue.
  • Electrocardiogram (ECG or EKG). This test can spot heart problems, such as an irregular heartbeat or damage to the heart muscle.

Treating muscular dystrophy

MD is a life-long condition. There is no cure. But managing it can prevent problems and deformities. The exact treatment depends on many things. They include the child’s age, overall health, and the type of MD.

A child with MD will eventually need a wheelchair because of weak leg muscles. Keeping the child as independent as possible is the main focus of treatment. Options include:

  • Physical therapy
  • Medicines including deflazacort
  • Psychological and nutritional counseling

Braces and splints may support and protect muscles. Special devices can help a child sit, stand, or lie down. Surgery may also be needed to fix scoliosis or other related problems.

Anne Fink made spinal surgery look a walk in the park, but she will be the first to tell you it’s because of Johns Hopkins spine surgeon Khaled Kebaish. “Thanks to him, I’m a walking medical miracle. He gave me my life back,” she says.


Duchenne Muscular Dystrophy

Muscular Dystrophy | Johns Hopkins Medicine

Linkedin Pinterest Brain, Nerves and Spine Brain Tumor What You Need to Know

  • Duchenne muscular dystrophy, or DMD, is associated with the most severe clinical symptoms of all the muscular dystrophies.
  • It is caused by a genetic mutation on one of the mother’s X chromosomes, and researchers have identified some of the affected genes.
  • Duchenne muscular dystrophy is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes.
  • Duchenne muscular dystrophy mostly affects boys and occurs in one in 3,500 to 5,000 newborns. There is no higher risk for any ethnic group.
  • Children affected by DMD may have some degree of cognitive problems, yet some have average or even higher-than-average intelligence.

Muscular dystrophy is a genetic problem that causes muscles to weaken and atrophy (become smaller and waste away).

Muscle weakness may affect the skeletal muscle or the heart muscle. It is caused by the inability of muscles to respond to nerve impulses from the brain

Duchenne Muscular Dystrophy Symptoms

DMD most commonly appears in children between 3 and 6 years old. Children may have difficulty walking or getting up from a seated position or from lying down. Parents or caretakers may notice weakness of the shoulder and pelvis, abnormal clumsiness and frequent falling. Other symptoms and signs include:

  • Difficulty going up stairs

  • Inability to jump

  • Walking on tip-toe

  • Leg pain

  • Facial weakness, including inability to whistle or close eyes

Heart problems may include irregular heartbeat and enlargement of the heart muscle tissue. If the spine becomes curved (scoliosis), breathing and lung function may become difficult.

Risk Factors for Duchenne Muscular Dystrophy

DMD is a genetic disease caused by a gene on the X chromosome that mothers can pass on to their sons. The gene affects a protein called dystrophin that muscles require to function normally.

Diagnosing Duchenne Muscular Dystrophy

After conducting a physical and taking a detailed history of signs and symptoms, noting any occurrence of muscular dystrophy in family members, the doctor examines your child and runs tests, including:

Blood tests: These include genetic blood tests, which can reveal the gene mutation causing absence of dystrophin in about two thirds of boys with DMD.

Muscle biopsy: For those children who have clinical evidence of DMD but who do not show one of the common mutations, a small sample of muscle tissue examined under a microscope can confirm the diagnosis.

Electromyogram (EMG): This test checks to see if your child’s muscle weakness is a result of destruction of muscle tissue rather than nerve damage.

Electrocardiogram (ECG or EKG): A test that records the electrical activity of the heart, an ECG shows abnormal rhythms (arrhythmias or dysrhythmias) and detects heart muscle damage.

A genetics counselor reviews the history of disease with each family, discusses the principles of inheritance and helps weigh risks and benefits of genetic testing of various family members, including the affected child and potentially carrier testing for the mother. 

Duchenne Muscular Dystrophy Treatment

A multidisciplinary approach with a team of specialists with experience in treating DMD can offer your child the chance for longer survival and better quality of life.

The first line of treatment is corticosteroids, which have been shown in clinical trials to decrease the rate of declining strength in people with DMD. A neurologist will manage this treatment and help minimize medications’ side effects.

The neurologist directs your child’s care and coordinates services among the team, which is ly to include additional experts:

  • Physical and occupational rehabilitation professionals design exercise programs for your child and teach stretching activities to minimize limiting contractures.

  • Orthopaedic surgeons with expertise in DMD can treat severe contractures and scoliosis.

  • Pediatric cardiologists track your child’s heart function with EKGs and echocardiograms.

  • A designated Muscular Dystrophy Association liaison is critically important, offering support to families and schools on a number of levels including social, financial and educational.