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Duchenne Muscular Dystrophy

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Duchenne Muscular Dystrophy BRIAN CHANDA CHILUBA Dip.PT; Cert. NDT NEUROLOGY CLASS PRESENTATION * As the boy gets older, muscle weakness will become apparent. – PowerPoint PPT presentation

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Title: Duchenne Muscular Dystrophy


1
DuchenneMuscular Dystrophy
  • BRIAN CHANDA CHILUBA
  • Dip.PT Cert. NDT
  • NEUROLOGY CLASS PRESENTATION

2
Overview
  • Basic information about Duchenne muscular
    dystrophy
  • Inheritance
  • Prevalence
  • Symptoms
  • Treatments

3
What Is Duchenne Muscular Dystrophy?(1)
  • Genetic
  • Progressive muscle weakness
  • Defects in muscle proteins
  • Death of muscle tissue

4
MUSCULAR DYSTROPHY
  • Muscular dystrophies - group of genetic
    conditions characterized by progressive muscle
    weakness and wasting (atrophy)
  • 20 different types of muscular dystrophy exist
  • (DMD) is named after the French neurologist
    Guillaume Benjamin Amand Duchenne (18061875),
    who first described the disease in 1861

5
DMD
  • (DMD) is a severe recessive X-linked form of
    muscular dystrophy characterized by rapid
    progression of muscle degeneration, eventually
    leading to loss of ambulation and death
  • DMD is caused by a defective gene for dystrophin
    (a protein in the muscles) or by mutations in the
    dystrophin gene, which is located on the X
    chromosome

6
DMD
  • DMD absence of the dystrophin protein weakens the
    connections between all of the proteins in
    the muscle and the cell membrane
  • cell membrane becomes weaker and ruptures
  • particles, such as calcium, can move in and out
    of the ruptured cell membrane

7
Where is This Gene?
8
PHYSIOLOGY OF DYSTROPHIN
The dystrophin molecule anchors the cytoskeleton
of muscle cells to the extracellular matrix, via
the dystrophin glycoprotein complex. This
includes the sarcoglycans (mutations in which
cause limb-girdle muscular dystrophies) and
dystroglycans. Muscle cells that lack dystrophin
are mechanically fragile, and fail after a few
years, hence progressive muscle weakness.
9
Duchenne Muscular Dystrophy Inheritance(1)
  • Mother carries the recessive gene and passes it
    to her child
  • Trait is usually expressed in
  • males only

10
Prevalence of DMD(1)
  • Affects one in 3500 to 5000 newborn males
  • 1/3 of these with previous family history
  • 2/3 sporadic


11
Symptoms of DMD(1)
  • Symptoms usually appear before age 6
  • Delayed developmental milestones
  • Loss of motor skills
  • Characteristic gait
  • Calf hypertrophy
  • Clumsiness/frequent falls

12
More Symptoms of DMD(1)
  • Muscle weakness
  • Difficulty climbing stairs or hills
  • Difficulty rising (Gowers sign)
  • Difficulty walking/running


13
GOWERS SIGN
14
PROGNOSIS
Duchenne muscular dystrophy leads to quickly
worsening disability. Death usually occurs by age
25, typically from lung disorders
15
Treatments for DMD (1)
  • To improve breathing
  • O2 therapy
  • Ventilator
  • Scoliosis surgery
  • Tracheotomy

16
Treatments (cont.) (1)
  • To improve mobility
  • Physical therapy
  • Surgery on tight joints
  • Prednisone-ppppppppppppppppppppp
  • Non-steroidal medications-oooooo
  • Wheelchair

17
PHYSIOTHERAPY TREATMENT
  • AIM TO
  • minimize the development of contractures and
    deformity by developing a program of stretches
    and exercises where appropriate
  • anticipate and minimize other secondary
    complications of a physical nature
  • monitor respiratory function and advise on
    techniques to assist with breathing exercises and
    methods of clearing secretions

18
The Beginning of Gene Therapy for DMD (2)
19
Advances in Gene Therapy(3)
  • Researches have developed "minigenes," which
    carry instructions for a slightly smaller version
    of dystrophin, that can fit inside a virus
  • Researchers have also created the so-called
    gutted virus, a virus that has had its own genes
    removed so that it is carrying only the
    dystrophin gene

20
Problems with Gene Therapy(3)
  • Muscle tissue is large and relatively
    impenetrable
  • Viruses might provoke the immune system and cause
    the destruction of muscle fibers with the new
    genes

21
COMPLICATIONS
  • Cardiomyopathy
  • Congestive heart failure (rare)
  • Deformities
  • Heart arrhythmias (rare)
  • Mental impairment (varies, usually minimal)
  • Permanent, progressive disability
  • Decreased mobility
  • Decreased ability to care for self
  • Pneumonia or other respiratory infections
  • Respiratory failure

22
References
  • 1. Muscular Dystrophy PowerPoint by Katherine
    Kolor, PhD, MS, CDC Ambassador Program, June
    2005.
  • 2. Pobojewski, S. The University Record,
    November 9, 1998. U-Ms improved viral vector
    delivers dystrophin gene to mouse muscle without
    major immune Response online. 1998. cited
    2005 June 26. Available at URL
    http//www.umihc.edu/urecord/9899/Nov09_98/12.htm
    l
  • 3. Journey of Love A Parents Guide to
    Duchenne Muscular Dystrophy online. 2004.
    cited 2005 June 22. Available from URL
    http//www.mdausa.org/publications/journey/5.html
  • 4. Dictionary.com. Lexico Publishing Group, LLC.
    online. 2005. cited 2005 June 22.
    Available from URL http//dictionary.reference.
    com/

23
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