Genetic Diseases

Genetic Testing for Duchenne Muscular Dystrophy (DMD)

DMD is an X-linked disease causing progressive muscle weakness and muscle fiber breakdown.

Genetic Diseases

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.

Frequently Asked Questions

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Contact Gene Negar Ayandegan for sample submission, laboratory collaboration, or more information.

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Gene Negar Ayandegan · Genetic Testing for Duchenne Muscular Dystrophy (DMD)