muscle disease

Question 1

duchenne muscular dystrophy

Answer 1

Age: 3-5 yrs
pattern: gower’s maneuver, pseudo hypertrophy of calves
genetic transmission: X-linked recessive deleted

Question 2

Beckers muscular dystrophy

Answer 2

Age: > 7 yrs with longer course
pattern: same pattern as duchenne
genetic transmission: X-linked recessive mutated

Question 3

myotonic dystrophy

Answer 3

Age: childhood or 2-4 decades
pattern: distal hand, leg and neck flexion, myotonia, facial bi-temporal wasting (hatchet face)
genetic transmission: autosomal dominant CTG expansion

Question 4

limb girdle muscular dystrophy

Answer 4

Age: 1-5th decades
pattern: proximal weakness (limb girdle)
genetic transmission: AD, AR or X-linked

Question 5

facioscapulohumeral dystrophy

Answer 5

Age: end of 1st or in 2nd decade
pattern: proximal arm/distal leg weakness scapular winging
genetic transmission: autosomal dominant

Question 6

name the three important inflammatory myopathies

Answer 6

polymyositis
dermatomyositis
inclusion body myositis

Question 7

describe polymyositis

Answer 7

limb-girdle and pharyngeal weakness
myalgias, fatigue
anti-jo-I antibody
treat with steroids, IVIG, immunosuppressants

Question 8

describe dermatomyositis

Answer 8

kids and 50-60yrs
limb-girdle weakness and rash, grottons papules, periorbital edema, mechanics hands
look for malignancy

Question 9

describe inclusion body myositis

Answer 9

distal hand proximal leg weakness
asymmetric
Males > females > 50yrs old