Myotonic Disorders

Question 1

what is myotonic muscular dystrophy

Answer 1

onset is from early child to adult

can be newborn if congenital

dominat c equal MF

slow progression

aka steinert’s - most common adult form of myotonic muscular dystrophy

Question 2

clinical pres of myotonic muscular dystrophy

Answer 2

inability of muscle to relax - hands and feet

distal more

long thin face c temporal and masseter wasting - lugubrious

frontal baldness

cataracts

gonadal atrophy

mild retardation

more sleep

dysrhythmias - death

Question 3

myotonia congenita

Answer 3

thomsen’s

dominant

present at birth but manifests late

inc c prolonged rest and cold

herculean

recessive: becker form; late onset c more intense sx

Question 4

paramyotonia congenita

Answer 4

dominant

mild involvement aggravated by cold

severe hypertrophy of faceand hand

myotonic ep that subsides c/in hourse

Question 5

schwartz jampel syndrome

Answer 5

recessive

short neck, kyphosis, hypertrophic

dwarfism

bone disease

narrow palpebral fissure

blepharospasm

micrognathia

flat facies