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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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CMD Muscle Biopsy Magnetic Resonance Imaging (MRI) Merosin Deficient CMD
Lack of All or SomeMuscle Protein, Merosin Merosin + Merosin - Somewhat Merosin -
White Matter Abnormalitiesin the Brain – visible in MRIs - no affect on brain functioning
Muscle Weakness • Merosin levels are somewhat low; children walk by 2 or 3 • Merosin is completely deficient; children never walk
General muscle weakness • Delayed motor milestones • Decreased tone in skeletal muscles • Poor head control • 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…”
Other Surgeries • Relieving of tendon tension to eliminate or lesson contractures • Insertion of a G-tube for supplemental feedings.