Genetics and Multi-system Disease Flashcards
what is a mutli system disorder
affect more than one sustem
have a genetic cause
germ line genetic variations in every cell
what are the different types of modes of inheritence
chromosomal
single gene disorders
multifactorial
what are examples of chromosomal inheritance
trisomy 21
translocations, deletions
what are examples of single gene
autosomal domiannt- myotonic dystrophy
autosomal recesisve-CF
x linked- ducheene muscular dystrophy, haemophilia
what is multifacotiral
polygeneic
environmental factors
diabetes
why multi system disorder
several genes with diverse functions
extra copies
deletions, microdeletions
what are common problems in multi system diseases
variable expression
difficult to predict
what is neurofibromatosis type 1
autosomal dominantcafé au lait spots - 6 or more neurofibromas - 2 or more axillary freckling Lisch nodules (specks in iris) optic glioma thinning of long bone cortex family history leads to uncontrolled tumours in nervous system
what is the diagnosis of nf1
using diagnostic criteria 2 must be present
what is the manegement of nf1
BP spine for scoliosis tibia for unusual angulation visual acuity and visual fields educational assessment ask patient to report any unusual symptoms
what is the gene in nf1
-17 q which is a tumour suppressor gene
what is the different between nf1 and nf2
on chromosome 22
causes acoustic neuroma
what is tuberous scerlosis
autosomal dominant epilepsy -monoclonic seizures skin lesions learning difficulties TSC1 and TSC2
what is the screening for TS
exxmaination- retinal exmaination
MRI
renal US
what is myotonic dystrophy
autosomal domiannt
muscle stiffness
weakness
myotonia
