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Merosin Deficient Congenital Muscular Dystrophy - PowerPoint PPT Presentation


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Merosin Deficient Congenital Muscular Dystrophy. Cause and Diagnosis. Autosomal Recessive. CMD. Muscle Biopsy. Magnetic Resonance Imaging (MRI). Merosin Deficient CMD. Flaws in the Brain. Lack of All or Some Muscle Protein, Merosin.

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Presentation Transcript
slide5
CMD

Muscle Biopsy

Magnetic Resonance Imaging

(MRI)

Merosin Deficient CMD

lack of all or some muscle protein merosin
Lack of All or SomeMuscle Protein, Merosin

Merosin + Merosin - Somewhat Merosin -

muscle weakness
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

  • Delayed motor milestones
  • Decreased tone in skeletal muscles
  • Poor head control
  • Contractures
chewing and swallowing
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.
breathing
Breathing
  • Breathing very shallow, especially at night; a ventilator is often used
treatments available from a site called congenital muscular dystrophy
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…”
other surgeries
Other Surgeries
  • Relieving of tendon tension to eliminate or lesson contractures
  • Insertion of a G-tube for supplemental feedings.