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Decode Duchenne

About Duchenne and Becker Muscular Dystrophy

Duchenne muscular dystrophy is a genetic disorder characterized by the progressive loss of muscle. It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.

Duchenne is caused by a change in the dystrophin gene. Without dystrophin, muscles are not able to function or repair themselves properly. Becker muscular dystrophy, which is less severe than Duchenne, occurs when dystrophin is manufactured, but not in the normal form or amount. Because the dystrophin gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. However, some females can manifest varying ranges of physical symptoms of Duchenne and are therefore called manifesting carriers.

To learn more about Duchenne and Becker muscular dystrophy, please click here. You can also access free genetic counseling support for Duchenne and Becker muscular dystrophy at Parent Project Muscular Dystrophy at 888-520-8675 or emailing decode@parentprojectmd.org.

Decode Duchenne

Incidence

Duchenne/Becker muscular dystrophy (Duchenne) is the most common muscular dystrophy in children. About one out of every 5,000 boys has Duchenne, and about 20,000 babies worldwide are born with it each year. Duchenne mostly affects boys and reaches across all races and cultures. Parent Project Muscular Dystrophy (PPMD) estimates that there are about 15,000 young men, as well as a few young women, living with Duchenne today in the United States.

Inheritance

Duchenne is a “X-linked” disorder. You may have someone in your family who has or had Duchenne. As a genetic disorder, Duchenne is passed down from a parent to a child, so it could already be in your family’s genes. But Duchenne muscular dystrophy can also occur due to a new, or spontaneous, genetic change, or variant, even if no one in your family has had it before. In fact, one out of every three cases of Duchenne are caused by a spontaneous change in the Duchenne gene, with no family history.

Program eligibility

The Decode Duchenne program is for individuals with:

A known or suspected diagnosis of Duchenne or Becker muscular dystrophy* or an elevated CK level.

If you suspect Duchenne or Becker muscular dystrophy due to a positive family history, please call 888-520-8675 or email decode@parentprojectmd.org to ensure appropriate testing is ordered. Decode Duchenne may be unable to provide payment for incorrectly ordered genetic tests.

*This portal is not appropriate for carrier testing. If you are interested in carrier testing for a patient, please click here. 

About the test

i. First-line testing includes sequencing and/or deletion duplication analysis of DMD gene.

ii. Reflex to panel testing for negative first-line testing results. Please review the genes included in the panel in the "genes tested" accordion below.

Genes tested

ACTA1, AGRN, ALG14, ALG2, ANO5, ASAH1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1,CACNA1S, CAPN3, CAV3, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DDC, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EMD, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GFPT1, GMPPB, GNE, HNRNPA2B1, HNRNPDL, IGHMBP2, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, LAMA2, LAMB2, LAMP2, LARGE1, LDB3, LIMS2, LMNA, LMOD3, LRP4, MATR3, MEGF10, MTM1, MUSK, MYF6, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, PHKA1, PLEC, PLEKHG5, PMP22, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PYGM, RAPSN, RYR1, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SMCHD1, SNAP25, SQSTM1, STAC3, STIM1, SUN1, SUN2, SYNE1, SYNE2, TAZ, TCAP, TIA1, TMEM43, TMEM5, TNNI2, TNNT1, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, UBA1, VCP, VMA21, VRK1