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.