1 / 19

Merosin Deficient Congenital Muscular Dystrophy

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.

jaden
Download Presentation

Merosin Deficient Congenital Muscular Dystrophy

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Merosin DeficientCongenital Muscular Dystrophy

  2. Cause and Diagnosis

  3. Autosomal Recessive

  4. CMD Muscle Biopsy Magnetic Resonance Imaging (MRI) Merosin Deficient CMD

  5. Flaws in the Brain

  6. Lack of All or SomeMuscle Protein, Merosin Merosin + Merosin - Somewhat Merosin -

  7. White Matter Abnormalitiesin the Brain – visible in MRIs - no affect on brain functioning

  8. Seizures

  9. Effects on the Muscular System

  10. Muscle Weakness • Merosin levels are somewhat low; children walk by 2 or 3 • Merosin is completely deficient; children never walk

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

  12. 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.

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

  14. 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…”

  15. Scoliosis Surgery

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

  17. The End

More Related