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Saba Parvin Haque
MSc in Neuroscience
from “Sophia College For
Women”, Mumbai.
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.
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
▪ 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

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Duchenne Muscular Dystrophy (DMD).pdf

  • 1. https://www.youtube.com/chann el/UCAiarMZDNhe1A3Rnpr_WkzA Saba Parvin Haque MSc in Neuroscience from “Sophia College For Women”, Mumbai.
  • 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