What is DMD?
X-linked disorder with loss of dystrophin protein function.
Symptoms
Muscle weakness in late childhood, Gowers sign, elevated CK.
Genetic causes
Deletions, duplications or point mutations in the DMD gene.
Inheritance pattern
X-linked recessive.
Important genes
DMD.
Who should be tested?
Affected boys and carrier mothers planning future pregnancies.
Recommended tests
MLPA and DMD sequencing.
Counseling
Maternal carrier testing and PGT-M are important options.