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Muscular Dystrophy

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Madison Breidenbach

on 8 June 2016

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Transcript of Muscular Dystrophy

Muscular Dystrophy
Family History
Blood Testing
Creatine Kinase and Aldolase
Muscle Biopsy
Genetic Testing
Neurological Testing
Exercise Assessments
There is as yet no proven treatment available for MD (therapies and medication)
2 people with same disease are not alike
Monitoring of Muscle Health, Bone Health & Heart Health
Steroid Medications (corticosteroids)
Minimizing Contractures ( range of motion exercises)
Digestion & Nutrition
Emotional and Mental Health
Assistive Devices (AD) to continue ADL
Types of Inheritance
X-linked Recessive
Autosomal Recessive
Autosomal Dominant
Dystrophin Protein
Skeletal Muscles
Males= XY
Females= XX
Avoiding mutations
Proofreading- DNA polymerase
Methyl-directed mismatch repair
Reversing DNA base changes
Introduction to
Muscular Dystrophy
Group of genetic diseases affecting muscle fibers causing atrophy of the muscles.
Most people will eventually need to use a wheelchair.
Can occur in all races, ages and both sexes
Most common type (Duchenne) will be symptomatic in young boys.
Life expectancy is significantly lower.
Other types include: Myotonic, Congenital, Emery-Dreifuss, Facioscapulohumeral, Limb-girdle, Distal, and Oculopharyngeal.
Protein created by Dystrophin gene
Mainly found in skeletal and cardiac muscles
Link outer myofibrils to sarcolemma and extracellular matrix
Located on X chromosome
Protein Complex
Strengthen muscle fibers
Protects against injury
Connects muscle's cytoskeleton to extracellular matrix
Progressive muscle weakness
Frequent falls
Trouble running and jumping
Waddling gait
Pseudohypertrophy - Large calf muscles
Trouble breathing and swallowing
Trouble sleeping
Skeletal Muscles
Current Research
Works Cited
Definition. (2012, January 18). Retrieved October 4, 2014, from http://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/basics/definition/con-20021240

What are the types of muscular dystrophy? (2013, December 6). Retrieved October 5, 2014, from http://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/pages/types.aspx

Active Grants. (n.d.). Retrieved October 5, 2014, from http://mda.org/sites/default/files/All_Active_Grants_June-2014.pdf

Nowak, Kristen , J. & Davies, Kay, E. (2004). Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment. EMBO, Sep, 5(9), 872-876. Retrieved October 5, 2014, from http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1299132/.

Shriver, E. (2012, November 30). How is muscular dystrophy diagnosed? Retrieved October 4, 2014, from http://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/pages/diagnosed.aspx

Widmaier, E., Raff, H., & Strang, K. (2014). Muscle. Vander's Human Physiology (13 ed., pp. 262-283). New York : McGraw-Hill .

Lifestyle Changes
Preclinical and clinical research each takes five to seven years and costs several million dollars.
The University of Melbourne
Hebrew University of Jerusalem
U of I
The Ohio State University
Nationwide Children's Hospital
Action Potentials
Motor neurons innervate skeletal muscle fibers
Axon terminals contain vessicles
Acetylcholine (ACh)
Motor End Plate
Muscle fiber plasma membrane directly under terminal portion of axon
Neuromuscular Junction
Where axon terminal meets motor end plate
Electrical activity of plasma membrane causes increase in cytosolic calcium
Calcium then acts to intiate force generation by actin and myosin

Symptoms Cont.
Congenital symptoms evident at birth
Becker's appears in teens or mid 20's
Myotonic features inability to relax muscles at will
Limb girdle affects hips, shoulders, and feet
Oculopharyngeal shows weakness of the eye, face, and throat
Braces, walkers, and wheelchair
Remodel or move to more accessible home
Make time for physical therapy and surgery
Ventilator for weakened respiratory muscles
Change type of bed
Full transcript