Myotonic Dystrophy Flashcards
What is the gene involved in myotonic dystophy?
DMPK
What does muscular dystrophy encompass?
disorders involving muscular weakness
What are 5 types of myotonic dystrophy?
Duchenne’s
type 1/2 myotonic dystrophy
FSHD
Limb girdle muscular dystrophy
What is the difference between type 1 and 2 myotonic dystrophy?
Type 1 - insulin signaling
type 2 - dysregulation of zinc dependent enzyme
What does DM1 involve?
myotonia - inability to relax your muscles after the contract
What is the endpoint in muscular dystrophy?
Respiratory and cardiac failure
What are symptoms of DM1?
Drooping muscles
weak neck
difficulty swallowing
impotence
catarcats
What causes the weight loss in DM1?
Changes in the thyroid gland
What are 5 DM1 symptoms?
Distal weakness
Distal muscle atrophy
GI problems
Reduced life expectancy
Hypotonia
What are 3 DM2 specific symptoms?
Proximal weakness and atrophy
Calf muscles become huge
tremor
What is DM1 due to?
repeat length expansion in DMPK gene
What gene machinery does DM1 affect?
Long mRNA
Ribonucleic inclusion
Multiple Splice variants
Messed up transcription
Affects miRNA
Reduced AMPK expression
What 4 neurological behavior’s is DM1 associated with?
OCD
autistic traits
compulsive
apathy
What receptor can insulin bind to?
IGF-1 receptor, insulin receptor or hybrid of insulin and IGF-1 receptor
wHAT IS INSULIN AND igf-1 TONE REGULATED BY?
circulating binding proteins
