This pdf is about the Duchenne Muscular Dystrophy (DMD).
For more details visit on YouTube; @SELF-EXPLANATORY;
Duchenne Muscular Dystrophy (DMD): https://youtu.be/ftlPjFyxJBk
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2. What Is Duchenne Muscular
Dystrophy?
❑ It affects the muscles, leading to muscle wasting
that gets worse over time.
❑ They occur primarily in males, though in rare
cases may affect females.
❑ It is caused by an alteration (mutation) in a gene,
called the DMD gene.
❑ It encodes for the muscle protein, dystrophin.
❑ Boys with Duchenne muscular dystrophy do not
make the dystrophin protein in their muscles.
❑ There is no known cure for DMD, there are
treatments that can help control symptoms.
3. Muscle Weakness That Gets
Worse Over Time.
Enlarged Calf Muscles
(Pseudohypertrophy)
(Increased size of calf
muscles)
Early Signs May Include
Delayed Ability To Sit, Stand,
Or Walk And Difficulties
Learning To Speak.
Progressive
Weakness
Most children with
DMD use a wheelchair
by their early teens.
Loss (Atrophy) Of Both
Skeletal And Heart
Muscle
SYMPTOMS
Using hands to get up off
the floor (Gower's
maneuver)
DIAGNOSIS
Clinical
Diagnosis
Muscle
Biopsy
Blood
Test
Genetic
Testing
4. ▪ NHGRI. About Duchenne Muscular Dystrophy. Genome.Gov.
https://www.genome.gov/Genetic-Disorders/Duchenne-Muscular-Dystrophy
▪ Duchenne muscular dystrophy | Genetic and Rare Diseases Information Center (GARD) – an
NCATS Program. (n.d.). https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-
dystrophy