Nine year old Billy, a third grade student, began falling down repeatedly during activities at school. His parents noticed similar actions at home. When he started to stand, he had to walk his hands up his legs to straighten his body. At school, the P.E. teacher felt that physical education class activities were becoming too rigorous for Billy and he fatigued easily. Concerned, Billy's parents and teachers held a conference and set up several accommodations for him at school to try to ease his difficulties. After a visit to the pediatrician, referrals to a specialist, and medical testing, Billy was ultimately diagnosed with Duchenne muscular dystrophy.
What is Muscular Dystrophy?
Muscular dystrophy (MD) is a group of more than 30 inherited diseases that cause progressive muscle weakness and loss of muscle mass. These disorders can develop in infancy or childhood, usually in males, or begin later in life in both males and females. The symptoms and severity of these diseases varies according to the type of muscular dystrophy an individual has. In many cases, patients eventually lose their ability to walk and to care for themselves ("Muscular dystrophy", http://www.webmd.com, 2015). While there is no cure for muscular dystrophy, there are medications and treatments available that can help an individual to manage his disease.
What Causes Muscular Dystrophy?
The numerous diseases of muscular dystrophy are caused by either inherited genetic mutations or by spontaneous mutation when a gene develops a defect on its own during egg formation in the mother. These mutations impact various muscle proteins, causing muscles to not be able to repair themselves, which leads to their deterioration during contraction and relaxation (Quercia & Laberge, 2011)
What are the Main Types of Muscular Dystrophy?
There are nine main types or groups of muscular dystrophies. Each has different gene mutations, different muscles affected, and different rates of progression (Quercia & Laberge, 2011).
- Duchenne muscular dystrophy (DMD)- the most common form of MD, usually affects males, onset ages 2-3
- Becker muscular dystrophy (BMD)- milder than Duchenne, usually affects males, onset ages 11-25
- Myotonic muscular dystrophy- most common form for adults, affects face and neck muscles first, affects males and females, onset the 20's
- Facioscapulohumeral muscular dystrophy (FSH)- affects muscles in the face, shoulders, and upper arms, affects both males and females, onset teenage years to the 40's
- Congenital muscular dystrophy (CMD)- affects both males and females, onset at birth or shortly thereafter
- Limb-girdle muscular dystrophy (LGMD)- affects both males and females, onset teenage years to the 20's
- Emery-Dreifuss muscular dystrophy (EDMD)- in some cases can affect the heart, usually affects males, onset age 10
- Oculopharyngeal muscular dystrophy (OPMD)- affects eyelids, muscles in the face, shoulders, and throat, affects both males and females, onset the 40's to the 50's
- Distal muscular dystrophy (DD)- affects muscles in arms, legs, hands, feet, heart and respiratory system, affects both males and females, onset the 40's to the 60's
What are the Symptoms of Muscular Dystrophy?
An individual with muscular dystrophy will exhibit some of the following characteristics in accordance with his diagnosis ("Muscular dystrophy", http://www.mayoclinic.com, 2015):
- Frequent falling down
- Muscle weakness, cramps, pain, and stiffness
- Difficulty getting up, climbing stairs, running, jumping
- Walking on the toes, a waddling gait
- Large calf muscles
- Breathing problems
- Scoliosis (spine curvature)
- Heart problems
- Vision problems
- Weakness in facial muscles
- Learning disabilities
How is a Diagnosis of Muscular Dystrophy Made?
When considering the diagnosis of muscular dystrophy, medical professionals first collect a detailed medical history from the patient as well as a family history. A physical exam is conducted and lab testing ordered to examine the patient's blood levels of Creatine Kinase (CK), a muscle enzyme. A muscle biopsy, an Electromyogram (EMG) which looks at the response of muscles to stimulation, and genetic testing might also be ordered as well as other tests in accordance with specific symptoms experienced. Prenatal testing can be done in certain circumstances to examine DNA from tissue samples via amniocentesis or Chorionic Villus Sampling (Quercia & Laberge, 2011).
What Treatment Can Be Given to a Individual with Muscular Dystrophy?
Unfortunately, there is no cure for muscular dystrophy. Nothing can stop its progression or reverse it. However, there are numerous options available, depending on the type of MD an individual has, that can help to ease some of the difficulties of the disease. These include ("Muscular dystrophy", http://www.webmd.com, 2015):
- Physical therapy- stretching, muscle strengthening exercises, braces on legs, ankles, feet
- Occupational therapy- helps with loss of strength and dexterity, provides adaptive utensils, dressing aids, wheelchair accessories, communication aids, modifications in the home
- Speech therapy- help with talking if facial muscle weakness
- Respiratory therapy- teaches ways to make breathing easier or provides help from machines
- Dietary improvements - better nutrition for better overall health
- Drugs- prednisone to slow progression, anticonvulsants to help control seizures and muscle activity, blood pressure medications for heart problems
- Surgery- tenotomy (cut tendon in tightened muscles and regrow it with limb in relaxed position), scoliosis correction, lifting of eyelids
- Current clinical trials
How Can Teachers Help Students with Muscular Dystrophy?
There are many opportunities for teachers and school personnel to assist students with MD. Establishing an Individual Education Program (IEP) to combat areas of difficulty, setting up an Assistive Technology Team to assess a student's changing needs due to his disease progression, and maintaining a solid teacher-student-family team relationship are important to implement.
Teachers need to understand the areas of difficulty that a student with MD can experience. This includes ("How Will", 2015):
- Classwork and homework completion
- Writing tasks
- Paying attention and concentration
- Math skills
- Reading skills
- Social skills and peer relationships
- Class participation
- PE participation
- Missing class due to therapy sessions
- Special seating requirements
- Physical accessibility of the school environment - ramps, bathrooms, cafeteria
Specific accommodations that can be made are:
- Special transportation to and from school
- Physical and/or Occupational therapy
- Medical care and procedures to avoid infections
- Curriculum modifications
- Assignment of an aide, note taker, tutor
- Untimed tests
- Rest time, breaks during day
- Bathroom assistance
- Extra time between classes
- Extra set of books at home
- Allowing oral instead of written responses
- Inclusion in social and extracurricular activities
- Use of assistive technology and adaptations
Teachers should focus on a student's strengths and abilities and provide him as much independence as his disease will allow. Assistive technology (AT) and adaptations, including power wheelchairs, adapted tables and desks, adapted computer keyboards, laptops, the AlphaSmart 3000, infrared printers, and software programs such as Draft:Builder and Co:Writer 4000, can help with this. AT should always be assessed, re-evaluated, and modified by the AT team as the student's condition requires. Even though assistive technology and adaptations can be very helpful, because of the degenerative nature of muscular dystrophy, sometimes students feel undermotivated to use them. They may feel that using AT makes them look different from their peer group. Thus they can feel socially excluded and depressed. However, computers and the internet have been more positively received by many students with MD (Heller, Mezei, & Thompson Avant, 2008).
The Muscular Dystrophy Association has created a guide for teachers that contains many helpful tips and suggestions for the classroom. To learn more, click on the tab below.
How is Our Government Helping Individuals with Muscular Dystrophy?
Currently, there are several acts before Congress designed to increase research opportunities. These include ("Legislation", 2015):
- 21st Century Cares - an initiative to advance medical research and finding cures
- Ensuring Access to Clinical Trials Act of 2015 (the 'EACT') - legislation that will allow Supplemental Security Income (SSI) and Medicaid recipients to participate in and benefit from clinical trials without concern of losing benefits.
Funded by government agencies such as the National Institutes of Health (NIH), the National Institute of Neurological Disorders and Stroke (NINDS), and the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), many research projects are currently in progress. Research topics include advances in gene sequencing, gene replacement therapy, genetic modification therapy that bypasses inherited mutations, drug based therapy that delays muscle wasting, and cell based therapy ("Muscular Dystrophy: Hope", 2015).
What Resources Are Available to Patients and Families About Muscular Dystrophy?
For the parents of a child with special needs, the initial diagnosis can be frightening, devastating, and overwhelming, and can sometimes cause a state of denial in families. Educating themselves about their child's diagnosis enables parents to seek the best possible outcome for their child and for their family. Many organizations have been created over the years to help patients and their families understand MD and navigate its challenges. Several are listed below:
- The Muscular Dystrophy Association, for over 60 years, has helped patients and families learn about neuromuscular diseases, available services and support, current research, clinical trials, fundraising and volunteer efforts, advocacy, and much more. The MDA can be contacted at 1-800-572-1717 or click on the link below.
- Formed in 1994, Parent Project Muscular Dystrophy (PPMD) is the largest grass-roots, not-for-profit organization in the country whose focus is to aid those individuals diagnosed with Duchenne and Becker muscular dystrophy. The organization works to identify and support promising research efforts, provide comprehensive, state-of-the-art information about DMD, lobby policymakers, provide a support and communications network for parents, and raise awareness around the world (Furlong, 2005). PPMD can be contacted at 1-800-714-5437 or click on the link below.
- The Muscular Dystrophy Family Foundation Inc. (MDFF), established in 1958, works to serve families and patients affected by muscular dystrophy. The MDFF feels that a neuromuscular disease doesn't affect just the individual with the disease, but everyone in his or her family as well. Therefore, the entire family is able to receive services. The MDFF helps provide items such as manual and power wheelchairs, hospital beds, van lifts, breathing machines, ramps, shower chairs, computers, adaptive equipment, and items that insurance companies do not usually cover (Duncan, 2002). Their slogan is "No Boundaries" since they hope to eliminate boundaries for anyone with a disability. The MDFF can be contacted at 1-317-615-9140 or click on the link below.
Thousands of children and adults struggle daily living with the difficulties of muscular dystrophy. We can all help.
We can become organization volunteers. Donate our time, resources, and money.
We can lobby policymakers and ask them to provide more support for patients and families, improve access to clinical trials, and allot more funds for research to find cures.
You and I can make a difference in the life of an individual with muscular dystrophy.
Duncan, J.R. (2002, June). The muscular dystrophy family foundation inc. The Exceptional Parent, 32 (6), 90-91. Retrieved from
Furlong, P. (2005, February). Parent project muscular dystrophy. The Exceptional Parent, 35 (2), 61-62. Retrieved from
Heller, K.W., Mezei, P.J. & Thompson Avant, M.J. (2008). Meeting the assistive technology needs of students with duchenne muscular dystrophy. Journal of Special Education Technology, 23 (4), 15-30. Retrieved from http://search.proquest.com/ezproxy.aacc.edu
How will a student with a neuromuscular disease affect my classroom? Retrieved March 31, 2015, from http://mda.org
Legislation. Retrieved on March 31, 2015, from http://www.mda.org
Muscular dystrophy. Retrieved on March 31, 2015, from http://mayoclinic.org
Muscular dystrophy. Retrieved on March 31, 2015, from http://webmd.com
Muscular dystrophy: hope through research. Retrieved on April 10, 2015, from National Institute of Neurological Disorders and Stroke website: http://www.ninds.nih.gov
Quercia, N. & Laberge, M. (2011). Muscular dystrophy. In Longe, J.L. (Ed.), The Gale Encyclopedia of Children’s Health: Infancy Through Adolescence. 2nd ed. Retrieved from http://galenet.galegroup.com.ezproxy.aacc.edu