Duchenne's Muscular Dystrophy

Question 1

Duchenne’s inheritance

Answer 1

X-linked

Reproductive fitness is 0

Question 2

Duchenne’s signs

Answer 2

Toe-walking
Gower’s sign
Calf pseudohypertrophy (not productive muscle hypertrophy)
High creatinine kinase

Cariomyopathy 100% by 18 years.

Cardiac and pulmonary issues.

Question 3

DMD vs. Becker mutations

Answer 3

DMD: big mutation, frameshift

Becker: smaller, in-frame. Mild muscle complaints (some w/o symptoms). High CK, later-onset cardiomyopathy.

Question 4

How to treat DMD?

Answer 4

Leg braces, surgical tendon releases, pulmonary therapy.

Corticosteroids: prolong independent ambulation

Multidisciplinary care.

Eventually targeted therapy: antisense oligonucleotides with skipping capacity.