Congenital Muscular Dystrophy - PowerPoint PPT Presentation

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Congenital Muscular Dystrophy

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Merosin Deficient Congenital Muscular Dystrophy Cause and Diagnosis Autosomal Recessive CMD Flaws in the Brain Lack of All or Some Muscle Protein, Merosin White ... – PowerPoint PPT presentation

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Title: Congenital Muscular Dystrophy


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(No Transcript)
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Merosin DeficientCongenital Muscular Dystrophy
3
Cause and Diagnosis
4
Autosomal Recessive
5
CMD
Muscle Biopsy
Magnetic Resonance Imaging (MRI)
Merosin Deficient CMD
6
Flaws in the Brain
7
Lack of All or SomeMuscle Protein, Merosin
Merosin Merosin -
Somewhat Merosin -
8
MDAs Quest Magazine A Website Titled Congenital Weakness
Children are at risk for cognitive difficulties Mentality is normal
Merosin may not be the best way to determine if there are cognitive disabilities ___________________________________________________________________________________________________________________
Seizures and MRI scans can determine this ______________________________________________
9
White Matter Abnormalitiesin the Brain
visible in MRIs - no affect on brain functioning
10
Seizures
Have Seizures 20
Dont Have Seizures 80
11
Effects on the Muscular System
12
Muscle Weakness
  • Merosin levels are somewhat low children walk by
    2 or 3
  • Merosin is completely deficient children never
    walk

13
  • General muscle weakness
  • Decreased tone in skeletal muscles
  • Delayed motor milestones
  • Poor head control
  • Contractures

14
Chewing and Swallowing
  • This is difficult due to general muscle weakness,
    according to pediatric R.N. Wendy Yandle.
  • A G-tube is a port implanted into the stomach to
    give supplemental nutrition.

15
Breathing
  • Breathing very shallow, especially at night a
    ventilator is often used

16
Treatments Available(from a site called
Congenital Muscular Dystrophy
  • Physical Therapy (PT)
  • Regular stretching to maintain range of motion
    and prevent/delay contractures
  • Frequent exercise is important to maintain health
  • Strenuous exercise damages muscles
  • Occupational Therapy (OT)
  • Occupational therapy involves using methods and
    tools to compensate for the loss of strength and
    mobility

17
Scoliosis Surgery
18
Other Surgeries
  • Relieving of tendon tension to eliminate or
    lesson contractures
  • Insertion of a G-tube for supplemental feedings.

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The End
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