Merosin Deficient Congenital Muscular Dystrophy Cause and Diagnosis

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 + Merosin - Somewhat Merosin -

MDA’s “Quest Magazine Children are at risk for cognitive difficulties Merosin may not be the best way to determine if there are cognitive disabilities A Website Titled “Congenital Weakness” Mentality is normal _______________________ ____________ Seizures and MRI scans can ____________ determine this ____________

White Matter Abnormalities in the Brain – visible in MRIs - no affect on brain functioning

Seizures 20% Have Seizures 80% Don’t Have Seizures

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 • Delayed motor milestones • Poor head control • Decreased tone in skeletal muscles • 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