Muscular

Dystrophy

By: Santiago Romero, Jesus Garcia, Bryan Lilisa

What is Muscular Dystrophy?
● This is a broad term that describes a group of hereditary
(inherited) disorders of skeletal muscle structures
(necrosis and/or apoptosis of muscle cells)
● These result in the progressive destruction of muscle cells
and their replacement with connective tissue.
● The muscles break down and are replaced with fatty
deposits over time
● There are two very common MD which are Duchenne MD
and Becker MD they are very similar but Becker is milder
than Duchenne.
● Girls are rarely affected by both of these.
Types of muscular dystrophies
● Duchenne Muscular Dystrophy (DMD)
● Becker Muscular Dystrophy (BMD)
● Facioscapulohumeral Dystrophy (FSH or FSHD)
● Limb-Girdle Muscular Dystrophy (LGMD)
● Emery Dreifuss Muscular Dystrophy (EDMD)
Duchenne Muscular Dystrophy
● DMD is a degenerative muscle disease that affects primarily males,
either by X-linked recessive inheritance through a maternal carrier
or by spontaneous mutation of genes coding for dystrophin protein.
● Diagnosis is typically made by age 5 years, when physical abilities
fall noticeably below those of peers.
● Signs include progressive symmetrical weakness first affecting
proximal muscles of the hips, pelvis, and shoulder girdle.
● Many boys with DMD lose the ability to walk between ages 8 and
13; full time power wheelchair is common by age 12.
● Cardiac and respiratory functions are affected in later disease
stages.
● Children diagnosed today have the possibility of living into their
fourth decade.
Becker Muscular Dystrophy
● An X-linked recessive dystrophy resembling DMD, but less severe.
● Often with onset in adolescence or adulthood, although may also
present in childhood.
● Characterized by progressive weakness of trunk, pelvis, and
proximal upper and lower extremities, alongside pseudohypertrophy.
● Initially, difficulty in gait, climbing stairs, and rising from the floor.
● Contractures and skeletal deformities occur eventually, but these are
less severe than DMD.
● Early myocardial disease may develop.
● Cognitive impairment is less common than DMD.
● Disease progresses slowly and with much variability; most survive
well into mid to late adulthood.
Diagnosis
● Enzyme Tests: Damaged muscles release enzymes, such as creatine kinase (CK), into the
blood. In a person who hasn’t had a traumatic injury, high blood levels of CK suggest a
muscle disease.
● Genetic Testing: Blood samples can be examined for mutation in some of the genes that
cause types of muscular dystrophy.
Diagnosis cont.
● Muscle Biopsy: A small piece of muscle can be removed through an incision or with a
hollow needle. Analysis of the tissue sample can distinguish muscular dystrophies from
other muscle diseases.
● Electromyography: An electrode needle is inserted into the muscle to be tested. Electrical
activity is measured as the patient relaxes and tighten the muscle. Changes in the pattern of
electrical activity can confirm a muscle disease.
What causes muscular dystrophy?
● Like stated before is a genetic disease which means it is inherited.
● Genes which pretty much determines our hair and eye color
● We normally have 46 chromosomes so we have 23 pairs the last
pair determines what our gender is.
● Which for males we have two X chromosomes so DMD is causes
by an X linked recessive genes since females have Y and X
chromosome they are less likely to get it.
● But since it is recessive a mother can still pass it on to their child.
Signs & Symptoms of muscular dystrophy
● Muscular dystrophy is usually diagnosed in children between the ages of 3 and 6 years old.
● Early signs of MD are delay in walking, difficulty rising from a sitting or lying position
and frequent falling.
● They usually have weakness affecting the shoulder and pelvic muscles
● Here are some common symptoms clumsy movement, tip toe walking, inability to close
eyes or whistle, unable to jump hop normally also difficulty climbing stairs.
Signs & SYmptoms cont.
● A sign that would show if the child has Duchenne MD is gowers sign. This tests the child's
proximal hip muscles which will have to get up from sitting or supine position. The child
will go from supine>prone>prone on elbows> knees bent then extend arms
● One other signs is large calves due to the large amount of fatty deposits that are replacing
muscle.
Rehabilitation
● There is no cure for Muscular Dystrophy and people with MD should be monitored
throughout their lives.
● Treatment options are: medications, physical and occupational therapy, and surgical and
other procedures.
Rehabilitation cont. (Medications)
● Corticosteroids, such as prednisone and deflazacort (Emflaza), which can help muscle
strength and delay the progression of certain types of muscular dystrophy.

PRECAUTION: prolonged use of these types of drugs can cause weight gain and
weakened bones, increasing fracture risk.

● Newer drugs include eteplirsen (Exondys 51), the first medication to be approved by the
FDA specifically to treat some people with Duchenne MD.
● Heart medications, such as angiotensin-converting enzyme (ACE) inhibitors or beta
blockers, if MD damages the heart.
Rehabilitation cont. (surgery/bracing)
● The main surgeries considered for clients with dystrophies are for release of contractures
(e.g., ankles, adductors) and scoliosis correction.
● Orthosis device for weakened muscles. Duchenne’s MD may wear braces on the feet and
ankle to maintain gait.(Myotonic MD may wear wrist support to hold hands in position
while typing or writing.)
 Rehabilitation cont. (pT & ot)
● Therapeutic exercise is focused on the prevention of contractures (stretching), attenuating (and in some
cases maintaining or even temporarily increasing) strength (strength training), and maintaining
cardiovascular health (aerobic exercise).
● ROM & stretching exercises: MD can restrict the flexibility and mobility of joints. Limbs often draw
inward and become fixed in that position. ROM exercises can help to keep joints as flexible as possible.
● Exercise: Low-impact aerobic exercise, such as walking and swimming, can help maintain strength,
mobility and general health. Some types of strengthening exercises also might be helpful.
● Respiratory Therapy: Ventilator, manual and mechanical assistive coughing techniques, services of in
home respiratory therapist, Using breath stacking to maintain vital capacity, and working on secretion
management.
Rehabilitation (evidence based research)
● In “Communication regarding breathing support for youth with Duchenne muscular
dystrophy” by Ferguson, M Wright, T Carter, C Van Halderen, R Vaughan, an M Otter they
state that respiratory failure is the most common cause of death in DMD.
● Ventilators for home use, manual and mechanically assisted coughing techniques, and the
services of in-home respiratory therapists are options for youth with DMD.
● Evidence supports the use of these modalities, but there seems to be few youth who are
receiving these therapies.
● Konagaya et al reported a median survival time of 31.0 years with noninvasive ventilator
support, compared to 20.4 years without ventilation.
● Jeppesen et al showed longer survival with noninvasive ventilator support, with the
15-year post-diagnosis survival increasing from 51.7% to 76.5% and 20-year survival
increasing from 41.3% to 66.6%.
● In 2004, the american thoracic society advocated for non invasive respiratory management,
mechanically assisted coughing and multidisciplinary care.
Adaptive Equipments
Mobility aids like electric scooter and wheelchairs will be useful for
later phases of MD

Scooter can play a role to the child and participate in desired activities

Standing wheelchairs will provide eye to eye with peers and provide a
stretch to hips and knees and ankles throughout the day. Very
expensive

Wheelchair with Seated elevator provides adjustment to eye level for

activities/tasks such as countertop or desk
Other professionals that will be essential to
communicate with:
Speech Language Pathologist

Primary Physician

Orthotist

Respiratory Therapist
Prognosis
● Some expected outcomes are the child losing muscle strength throughout time.
● Not so long ago children that were diagnosed would not live through their late teenage
years. Now a days a child diagnosed with DMD will live to their 30s and with other MD
are even known to live into their 40s and 50s and the life expectancy continues to increase.
Prognosis cont.
● Some of the psychological aspects of having MD are feelings of loss, sadness and
depression and they worry for their family members future. A study shows that 88% of
people that when a loved one is diagnosed the experience had a positive impact on their
lives.
● Throughout the child's life they will have lifelong management to prevent deformity and
complications. As child they will have a hard time sitting up and as they get older they will
have to use a wheelchair because their leg muscles becoming to weak.In their late teens to
early 20s they will begin to have heart or lung problems as all this happens all muscles are
getting weaker
THE Timeline of DMD
References
DURSTINE JL, MOORE G, Tarnopolsky MA. Chapter 38 Muscular Dystrophy. In: Exercise Management for Persons with Chronic
Diseases and Disabilities. Champaign, IL: Human Kinetics; 2003.

Ferguson E, Wright M, Carter T, Halderen CV, Vaughan R, Otter M. Communication regarding breathing support options for
youth with Duchenne muscular dystrophy. Paediatrics & Child Health. 2011;16(7):395-398. doi:10.1093/pch/16.7.395.

Roy SH, Wolf SL, Scalzitti DA. The Rehabilitation Specialist's Handbook. Philadelphia, PA: F.A. Davis; 2013.