Muscular Dystrophy

Question 1

what are muscular dystrophies in general

Answer 1

inherited progressive loss of strength in muscle groups

Question 2

discuss duchenne muscular dystrophy

Answer 2

most common form

recessive sex linked - Xp21

usually male but some isolated cases d/t mutation

onset around 4 yo

Question 3

pathophysiology of duchenne

Answer 3

dystrophin deficiency causes plasma membrane to collapse

1. mawawala anchoring elements in cytoskeleton
2. pasok ng pasok cells sa loob = burts
3. mapapalitan ng fibrotic tissue yung muscle fiber

Question 4

clinical pres of duchenne

Answer 4

psuedohypertrophy of calf

toe walk to compensate for weak knee ext

lordotic to compensate for weak hip ext

frequent falls, diff stair neg

pain on muscles

macroglossia

sever respi/cardiac prob by 20 yo

Question 5

what is gower’s test

Answer 5

when standing mag ccrawl to get up

Question 6

discuss cardio and respi abnormalities in duchenne

Answer 6

cardiac - low dystrophic protein in myocardium and purkinje

respi - weak muscles, altered mechanics and impairment of central control

Question 7

dx for duchenne

Answer 7

fam history

hx of malignat hyperthermia

elevated CK

Question 8

complications in duchenne

Answer 8

PF, knee flexor, hip flexor, ITB, elbow flexor and wrist flexor contractures over 13

socliosis if w/c by 12-15

respi infection

bed sores

Question 9

medical tx for duchenne

Answer 9

gulocorticoid corticosteroids - 6mo - 2 yrs

creatine

myoblast transplant

Question 10

ortho tx of duchenne

Answer 10

scoliosis - spinal fixation

Question 11

what is becker’s muscular dystrophy

Answer 11

milder and onset is later and slowly - 5-15 yo

Xp21

longer life - 30s-50s

Question 12

clinical manifestation of becker’s

Answer 12

gradual proximal weakness: LE then UE at 10-20 p onset

ext are weak

common: hip and knee ext and neck flexors

too much dystrophin

Question 13

what is severe childhood autosomal recessive muscular dystrophy

Answer 13

SCARMD

equal sex, 3-12 yo

proximal muscles and slower

abnormal dystrophin assoc glycoprotein

Question 14

ssx of SCARMD

Answer 14

calf hypertrophy

gower’s

loss of amb by 10-20

fewer spinal, cardio and pulmo compli

Question 15

what is congenital muscular dystrophy

Answer 15

hypotonia, muscle weakness, contractures and dystrophic patterns in first few hrs of life

static but may show slow progression

c or s CNS involvement

Question 16

congenital muscular dystrophy c CNS involvement

Answer 16

fakuyama:
- retardation
- structural malformation
- dystrophic myopathy

walker warburg
- retardations
- ocular abnormality
- cleft/lip palate

muscle eye-brain
- weakness
- retardation
- ocular abnormality

Question 17

congenital muscular dystrophy s CNS involvement

Answer 17

weakness

hypotonia

contracture

normal to md elevated CK

normal mental

Question 18

PT tx for congenital muscular dystrophy

Answer 18

bracing and casting, stretching

bracing for amb

power w/c if enough cognitive

Question 19

what is fascioscapulohumeral muscular dystrophy

Answer 19

autosomal dom c equal gender - 4p35

teens or early adult onset

slow progression c rapid spurts

3rd most common

Question 20

clinical pres of FSHD

Answer 20

facial: obrcularis oculi, orbicularis oris, zygomaticus

UE: traps, rhomboids, serratus ant, lats

from UE proximal

coat’s syndrome

Question 21

what is coat’s syndrome

Answer 21

early onset FSHMD c sensory neural hearing deficit

myopathy c rapid progression

w/c by 2nd and 3rd decade

Question 22

what is emery dreifuss

Answer 22

rare form and slow progression

early childhood, adolescence or early adult

x-linke recessive male - Xq28

affects scapulohumeral and peroneal distrbituion

Question 23

clinical manifestation of emery dreifuss

Answer 23

weak scapulohumeral and peroneal distrib (1st)

hallmark: elbow flexion contracture

arrythmia and cadiomyopathy

nocturnal hypoventialtion

tight cervical and lumbar ext

Question 24

what is limb girdle muscular dystrophy

Answer 24

childhood or adult

reccesive or dom c equal MF

first affects hip and shoulder girdle

and slow progression