Muscular Dystrophy Flashcards
What is the most prevalent form of muscular dystrophy in adults
Myotonic muscular dystrophy
What type of genetic mutation is myotonic muscular dystrophy
Autosomal dominant
What are the two distinct forms of myotonic muscular dystrophy
Dystrophy myotonica (DM1)
Proximal myotonic myopathy (DM2)
What causes DM1
It is transmitted by an intronic mutation of an unstable expansion of CTG
What causes DM2
DNA expansion of CCTG repeat
What specific gene is involved with Myotonic muscular dystrophy type 1
DMPK
What are some symptoms of DM1
Hatched shaped face
Frontal baldness
Weakness in wrists and fingers
foot drop
Distal muscles effected
What are some symptoms of DM2
Proximal muscles
cataracts
testicular atrophy
Constipation
Why do you get a serum CK when testing for myotonic muscular dystrophy
Looking for muscle breakdown
What is the definitive diagnosis for Myotonic muscular dystrophy
DNA analysis
What is the most common and severe form of childhood muscular dystrophy
Duchenne muscular dystrophy
Which gender is effected by Duchenne muscular dystrophy
Males exclusively
What is the largest gene in the human genome
Dystrophin
What happens when there is a mutation in the Dystrophin gene
Ongoing myofiber necrosis and regeneration
There will be a marked variation in size with the new myofiber
Which muscles are effected by the dystrophin genes
Cardiac
Skeletal
