Duchenne Muscular Dystrophy

DESCRIBED AS PROGRESSIVE MYOPATHY

LEADING TO MUSCLE WEAKNESS AND
EVENTUALLY ITS DEGRADATION.
How can an individual contract this disorder?

 Duchenne muscular dystrophy (DMD) is caused by

mutations in the DMD gene. The DMD gene provides
instructions for making a protein called dystrophin.
Dystophin is primarily made in the muscle cells of the heart
and skeletal muscle. The main job of dystrophin in muscle
cells is to stabilize and protect muscle fibers
 What is the significance Gower’s sign?

 Gowers' sign is a medical sign that indicates weakness of

the proximal muscles, namely those of the lower limb.
 Gowers' sign is classically seen in Duchenne
muscular dystrophy where it is mostly evident at 4-6years
 Relevance of the laboratory tests in the diagnosis of DMD

CK level. CK stands for creatine kinase, an enzyme that leaks

out of damaged muscle. When elevated CK levels are found in a
blood sample, it usually means muscle is being destroyed by some
abnormal process, such as a muscular dystrophy or inflammation.
A very high CK level suggests that the muscles themselves (and not
the nerves that control them) are the likely cause of the weakness,
although it doesn’t tell exactly what the muscle disorder might be.
 Electromyography can be used to distinguish conditions that
only impact the muscles (myotonic) from those that involve that
brain and muscles (neurogenic).
Molecular genetic testing  (usually blood cells are used) to see
whether there is a change or mutation in the DMD gene that can
cause DMD or one of the related dystrophinopathies
 Significance of dystrophin in the workup for DMD

 Dystrophin is a structural protein in skeletal muscle,

cardiac muscle and brain. It interacts with multimeric
protein complex associated with sarcolemma proteins
which plays an important role to maintain integrity of
muscle membrane. Molecular genetic studies indicate that
dystrophin is a huge gene located on the short (p) arm of
the X chromosome at position 21.2.and about two thirds of
mutations in this gene lead to DMD but no clear correlation
found between the extent of deletion and severity of
disorder. The finding of dystrophin mRNA in brain may
explain mental retardation in DMD patients.
 Risk Factors

Gender (male)
Family history
Male born to a member with defective gene
 Management

 Ankle-foot orthoses- sometimes prescribed for night wear

to keep the foot from pointing downward and keep the
achilles tendon stretched while the child is sleeping. Soon, a
wheelchair is needed in DMD, typically about age 10.
The American Academy of Pediatricians
recommends thaty people with DMD, have a
complete cardiac evaluation by a specialist
beginning in early childhood and again at least
every other year until age 10.

After, evaluation should be done every year or at

the onset of heart weakness, such as fluid retention
or shortness of breath.
 Gentle exercise is encouraged for people with DMD. Physical inactivity
(such as bed rest) can worsen the muscle disease, but so can
overexertion. Physical therapy may be helpful to maintain muscle
strength and function
 Steroids (corticosteroids) may improve the strength and function of
muscles in people with DMD, including lung function. Steroid options
include:[2][6]
 Prednisone is a steroid that has been shown to extend the ability to
walk by 2 to 5 years. However, the possible side effects of prednisone
include weight gain, high blood pressure, behavior changes, and
delayed growth.
 Deflazacort (another form of prednisone), is used in Europe and
believed to have fewer side effects and was recently approved in the
United States by the FDA.
 Oxandrolone, a medication used in a research study, also has similar
benefits to prednisone, but with fewer side effects.
Case Study 2:
1 month old baby girl here for her WCC. Birth
history is full term C/S for breech presentation. No
complications. Mom and baby discharged from
hospital on day of life 3. Baby has been exclusively
BF. She regained birth weight by two weeks of age
and has been gaining 35gm/day since your last
visit. Today’s PE is notable for positive Barlow and
negative Ortolani maneuvers.
Residents should refer to orthopedics, no need for
imaging first.