merosin deficient congenital muscular dystrophy cause and diagnosis

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