Transcript Congenital Muscular Dystrophy

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 +
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