Merosin Deficient Congenital 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 Some Muscle Protein, Merosin

Merosin +

Merosin -

Somewhat Merosin -

MDAs Quest Magazine

A Website Titled Congenital Weakness

Mentality is normal _______________________ _______________________ _______________________ _______________________ _______________________

Children are at risk for cognitive difficulties Merosin may not be the best way to determine if there are cognitive disabilities

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% Dont 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

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

Scoliosis Surgery

Other Surgeries
Relieving of tendon tension to eliminate or lesson contractures

Insertion of a G-tube for supplemental feedings.

The End