Genetic Disease Misc. lipodystrophies, muscular dystrophies and sex-linked below

Question 1

achondroplasia

Answer 1

most common form of genetic dwarfism
growth plates affected
failure of normal epiphyseal cartilage formation
Bullet vertebrae
trident hand

Question 2

Alkaptonuria

Answer 2

accumulation of HOMOGENTISIC ACID
blue-black deposits in cartilage, ears, nose, and cheeks
causes ONCHRONOSIS (calcification of discs in spine)
urine turns black on standing collection
can get increase of tyrosine
homogentisic acid is intermediate in phenylalanine and tyrosine metabolism

Question 3

charcot marie tooth

Answer 3

hereditary progressive peroneal muscle atrophy

affects tibialis anterior also

Question 4

downs

Answer 4

trisomy 21
male or female
retarded
flat, hypo plastic face
transverse palmar crease (simian crease)
transposition with chromosome 14

Question 5

edwards

Answer 5

trisomy 18

retardation

Question 6

huntingtons chorea

Answer 6

hereditary onset age 30-50
basal ganglion affected: atrophy of caudate
on chromosome #4
decrease in GABA
produces dementia and death