Congenital Muscular Dystrophy

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Merosin DeficientCongenital Muscular Dystrophy
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Cause and Diagnosis
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Autosomal Recessive
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CMD
Muscle Biopsy
Magnetic Resonance Imaging (MRI)
Merosin Deficient CMD
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Flaws in the Brain
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Lack of All or SomeMuscle Protein, Merosin
Merosin Merosin -
Somewhat Merosin -
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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 ______________________________________________
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White Matter Abnormalitiesin the Brain
visible in MRIs - no affect on brain functioning
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Seizures
Have Seizures 20
Dont Have Seizures 80
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Effects on the Muscular System
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Muscle Weakness

• Merosin levels are somewhat low children walk by
  2 or 3
• Merosin is completely deficient children never
  walk

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• General muscle weakness

• Decreased tone in skeletal muscles

• Delayed motor milestones

• Poor head control

• Contractures

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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.

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Breathing

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

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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

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Scoliosis Surgery
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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