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Emily Vanstrom
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Muscles first affected: Upper arms and lower legs. Progression: Slow ... weakens the skeletal or voluntary muscles, those in the arms, legs and trunk. ... – PowerPoint PPT presentation
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Title: Emily Vanstrom
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MUSCULAR DYSTROPHY
- Emily Vanstrom
- Technology of PETE
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What is Muscular Dystrophy?
- It is an inherited group of muscle disorders
which cause a slow but progressive degeneration
of the muscles. There are various different types
of muscular dystrophy including Becker's muscular
dystrophy, Duchenne muscular dystrophy, Myotonic
dystrophy, limb-girdle muscular dystrophy,
Landouzy-Dejerine muscular dystrophy and
Facioscapulohumeral muscular dystrophy, which are
also known as Steinert's disease.
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Early Stages of Muscular Dystrophy
- muscle weakness (which is the lack or strength in
the muscles) - progressive weaknesses (the pain gets stronger)
- frequent falls
- delayed development of muscle skills
- problems walking
- difficulty using a muscle group (the specific
muscle affected depends on the type of MD) - eyelids drooping
- drooling
- intellectual retardation
- present in only some types of muscular dystrophy
- floppy, decreased muscle tone
- skeletal deformities
- muscle deformities
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How an individual is effected
- Progressive muscle weakness may lead to several
disabilities depending on which muscle groups are
affected. One of the first muscle groups affected
are the muscles used for standing and walking. If
facial muscles are affected, the expression on a
person's face may change. Muscular Dystrophy can
cause arrhythmias (an irregular heartbeat).
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Different types of Muscular Dystrophy
- MYOTONIC Age of Onset Early childhood to
adulthood newborn period for congenital
formInheritance/gender affected Autosomal
dominant (one parent passes on one defective
gene)/males and femalesMuscles first affected
Face, feet, hands, front of neckProgression
Slow - LIMB-GIRDLE Age of Onset Teens or early
adulthoodInheritance/gender affected Autosomal
recessive dominant (both or only one parent can
pass the gene) males and femalesMuscles first
affected Hips and shouldersProgression Usually
slow - FACIOSCAPULOHUMERALAge of Onset Teens or early
adulthoodInheritance/gender affected Autosomal
dominant/ males and femalesMuscles first
affected Face and shouldersProgression Slow,
some times with rapid spurts - CONGENITAL Age of Onset At birthInheritance/gen
der affected Autosomal recessive (both parents
must pass gene)/males and femalesMuscles first
affected GeneralizedProgression Slow
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Different Types Continued
- OCULOPHARYNGEAL Age of Onset 40s, 50s, and
60sInheritance/gender affected Autosomal
dominant/males and femalesMuscles first
affected Eyelids and throatProgression Slow - DISTAL Age of Onset AdulthoodInheritance/gender
affected Autosomal recessive and dominant/males
and femalesMuscles first affected Hands and
lower legsProgression Variable - EMERY-DREIFUSS Age of Onset Childhood to early
teensInheritance/gender affected X-linked
recessive/malesMuscles first affected Upper
arms and lower legsProgression Slow
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Two of the most popular types of Muscular
Dystrophy
- Duchenne
- Becker
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Duchenne Muscular Dystrophy
- The gene for DMD, found on the X chromosome,
encodes a large protein, dystrophin. Dystrophin
is required inside muscle cells for structural
support it is thought to strengthen muscle cells
by anchoring elements of the internal
cytoskeleton to the surface membrane. Without it,
the cell membrane becomes permeable, so that
extracellular components enter the cell,
increasing the internal pressure until the muscle
cell "explodes" and dies. The subsequent immune
response can add to the damage. - DMD primarily affects boys, who inherit the
disease through their mothers. Women can be
carriers of DMD but usually exhibit no symptoms.
In DMD, boys begin to show signs of muscle
weakness as early as age 3. The disease gradually
weakens the skeletal or voluntary muscles, those
in the arms, legs and trunk. By the early teens
or even earlier, the boy's heart and respiratory
muscles may also be affected.
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Becker Muscular Dystrophy
- Becker Muscular Dystrophy is an inherited
disorder of muscle structure that results in
progressive weakness of limb and breathing
muscles. The involuntary muscles are not
affected. Becker Muscular Dystrophy usually
begins in the teens or early adulthood. - Boys are affected almost exclusively and every
ethnic background is affected. Some individuals
who have BMD can live a normal lifespan, however
most die sometime after the age of forty.
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Early Symptoms of Becker Muscular Dystrophy
- Early symptoms are
- -Cramps after exercising
- -Begin to experience problems while walking
quickly or running - -The feeling of being "worn out"
- -Changes in the skeletal system
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How can Muscular Dystrophy effect your life?
- Speech DifficultiesFor young men who suffer from
both DMD and learning disabilities, language and
communication skills are typically the main
concern. But manual skills, visual skills and
creativity are often excellent in young men with
DMD
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Continue..
- Caloric IntakeSteroid regiments often cause an
increase in appetite. Families need to be
concerned about weight gain as obesity causes
increased burden on muscle. In the event parents
choose to have their sons begin steroid therapy,
diet management should be addressed from the
start. Although steroid therapy may not be
suitable for every child, initiating a sound diet
may allow longer use of steroids while avoiding
excess weight gain. As mobility decreases,
calorie burn also decreases. Caloric intake
should be monitored in order to keep weight at a
healthy level - FoodsThe combination of immobility and weak
abdominal muscles in young men with DMD may
caused constipation. A diet high in fluid fiber,
with fresh fruits and vegetables should help the
digestion process
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Mobility with Muscular Dystrophy
- Mobility can come in many forms strollers,
bikes (if able), unassisted walking, walking with
a brace, electric scooters, manual or electric
chairs. Whatever the means, getting from place to
place (assisted or not) is essential to a DMD
child just as it is to any child. Parents should
consider that while it may be painful for them to
take the next step for their child to use an
alternate method to get around, it is a far
better choice than a child feeling "stuck."
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Be Educated..
- Muscular Dystrophy can not only effect the person
but it can affect individuals around them. The
best way to cope with a loved one or yourself
being diagnosed with muscular dystrophy is to be
well educated on all the facts and research on
MD.
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