Merosin Deficient

Congenital Muscular Dystrophy

Cause and Diagnosis
Autosomal Recessive
 CMD

Magnetic Resonance Muscle Biopsy

Imaging
(MRI)

Merosin
Deficient
CMD
Flaws in the Brain
 Lack of All or Some
Muscle Protein, Merosin

Merosin + Merosin - Somewhat Merosin -

 MDA’s “Quest A Website Titled
Magazine “Congenital
Weakness”

Children are at risk for Mentality is normal

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

Have 20%
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 • Delayed motor • Decreased tone in
weakness milestones 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