Merosin DeficientCongenital Muscular
Dystrophy
Cause and Diagnosis
Autosomal Recessive
CMD
Magnetic Resonance Imaging(MRI)
Muscle Biopsy
Merosin Deficient
CMD
Flaws in the Brain
Lack of All or SomeMuscle Protein, Merosin
Merosin + Merosin - Somewhat Merosin -
MDA’s “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
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Seizures and MRI scans can determine this
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White Matter Abnormalitiesin the Brain
– visible in MRIs - no affect on brain functioning
Seizures
Have Seizures
20%
Don’t Have Seizures
80%
Effects on the Muscular System
Muscle Weakness
• Merosin levels are somewhat low; children walk by 2 or 3
• Merosin is completely deficient; children never walk
• General muscle weakness
• Poor head control
• Decreased tone in skeletal muscles
• Delayed motor milestones
• Contractures
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 very shallow, especially at night; a ventilator is often used
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…”
Scoliosis Surgery
Other Surgeries
• Relieving of tendon tension to eliminate or lesson contractures
• Insertion of a G-tube for supplemental feedings.
The End