Locus DMD DMD

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle¹.

Prevalence

4.8100,000

Believed to be 0 for disease specific to STR expansion. 1/3500-4700 male births (incidence) for overall DMD (one of the most common and severe congenital myopathies)². 4.8/100,000 prevalence³. DMD repeat locus expansion only identified in one Greek family⁴.

Age of Onset

Typical: 6-7 (usual disease is 0-3)⁴.

HPO Terms

HP:0000750 Delayed speech and language development HP:0001252 Hypotonia HP:0001256 Mild intellectual disability HP:0001263 Global developmental delay HP:0001265 Hyporeflexia HP:0001270 Motor delay HP:0001324 Muscle weakness HP:0001328 Specific learning disability HP:0001371 Flexion contracture HP:0001635 Congestive heart failure HP:0001638 Cardiomyopathy HP:0001644 Dilated cardiomyopathy HP:0001771 Achilles tendon contracture HP:0002091 Restrictive ventilatory defect HP:0002093 Respiratory insufficiency HP:0002194 Delayed gross motor development HP:0002505 Loss of ambulation HP:0002515 Waddling gait HP:0002650 Scoliosis HP:0002747 Respiratory insufficiency due to muscle weakness HP:0002791 Hypoventilation HP:0002870 Obstructive sleep apnea HP:0002878 Respiratory failure HP:0003089 Hamstring contractures HP:0003115 Abnormal EKG HP:0003202 Skeletal muscle atrophy HP:0003236 Elevated circulating creatine kinase activity HP:0003307 Hyperlordosis HP:0003323 Progressive muscle weakness HP:0003391 Gowers sign HP:0003551 Difficulty climbing stairs HP:0003560 Muscular dystrophy HP:0003701 Proximal muscle weakness HP:0003707 Calf muscle pseudohypertrophy HP:0006380 Knee flexion contracture HP:0008981 Calf muscle hypertrophy HP:0011675 Arrhythmia HP:0030051 Tip-toe gait HP:0100543 Cognitive impairment

Association

Mendelian

Locus

hg19chrX:31302674-31302722

hg38chrX:31284557-31284605

t2tchrX:30882677-30882743

Details

There is conflicting evidence for the association between this repeat expansion and Duchenne muscular dystrophy. The association was reported in a single family, from which the benign and pathogenic ranges were inferred from affected and unaffected family members⁴. The population frequency of the proposed pathogenic allele is much higher than expected for a highly penetrant early-onset condition: a large population analysis found the proposed pathogenic genotype at 4.7% of gnomAD males and 0.09% of gnomAD females, far exceeding DMD prevalence and supporting refutation of this repeat expansion as a disease-causing locus⁵. See the criTRia curation for full evidence details⁶.

Mechanism

LoF

Functional defect in dystrophin/dystroglycan⁷.

Detection

Year

2016⁴

Location in Gene

Intron 62

Gene Strand

Alleles

Ref. Motif

TTC

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CTT

Pathogen. (gene)

AAG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

–

Interrup. (gene)

–

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0010679

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genereviews:NBK1119

Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis.

Nader,Salari, Behnaz,Fatahi, Elahe,Valipour, Mohsen,Kazeminia, Reza,Fatahian, Aliakbar,Kiaei, Shamarina,Shohaimi, Masoud,Mohammadi

Journal of orthopaedic surgery and research · 2022-02-15

pmid:35168641

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene.

Kyriaki,Kekou, Christalena,Sofocleous, George,Papadimas, Dimitris,Petichakis, Maria,Svingou, Roser-Maria,Pons, Pelagia,Vorgia, Artemis,Gika, Sophia,Kitsiou-Tzeli, Emmanuel,Kanavakis

Molecular and cellular probes · 2016-07-12

pmid:27417533

STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.

Laurel,Hiatt, Ben,Weisburd, Egor,Dolzhenko, Vincent,Rubinetti, Akshay K,Avvaru, Grace E,VanNoy, Nehir Edibe,Kurtas, Heidi L,Rehm, Aaron R,Quinlan, Harriet,Dashnow

Genome medicine · 2025-03-26

pmid:40140942

STRchive

url:https://strchive.org/critria/DMD_DMD

The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis.

Motoi,Kanagawa, Tatsushi,Toda

Journal of human genetics · 2006-09-13

pmid:16969582

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Genetic Analysis and Reproductive Intervention in a Duchenne Muscular Dystrophy Family With Cryptic Complex Chromosomal Rearrangement Identified by Structural Variation Sequencing.

Shengfang,Qin, Xueyan,Wang, Jin,Wang, Xiangyou,Leng, Zhuo,Zhang, Ximin,Chen, Yan,Yin

Human mutation · 2026-09-30

pmid:42820057

Long-read sequencing identifies complex structural variants in DMD patients.

Yi,Xie, Lijun,Bao, Xuenan,Yu, Yan,Liu

BMC medical genomics · 2026-03-29

pmid:41906116

Clinical diagnosis and genetic analysis of a rare case of Duchenne muscular dystrophy and spinal muscular atrophy.

Yingwen,Liu, Minmin,Wang, Keji,Zhang, Lulu,Yan, Changshui,Chen, Haibo,Li

Molecular cytogenetics · 2026-02-14

pmid:41691287

Prenatal diagnosis of Prader-Willi syndrome via maternal UPD15 with placental mosaicism: incidental discovery of fetal DMD carrier status.

Yanchou,Ye, Yiman,Fu, Zhechao,Zhang, Haofeng,Ning, Fangchao,Tao, Xiaonan,Wang, Qun,Fang, Zheng,Chen, Xiulan,Hao

Frontiers in genetics · 2025-10-30

pmid:41244984

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells.

Luca,Caputo, Cedomir,Stamenkovic, Matthew T,Tierney, Alessandra,Cecchini, Monica,Nicolau, Gabriele,Guarnaccia, Jesus R,Barajas, Maria Sofia,Falzarano, Rhonda,Bassel-Duby, Alessandra,Ferlini, Eric N,Olson, Pier Lorenzo,Puri, Alessandra,Sacco

Stem cell reports · 2025-10-30

pmid:41173008

Fibroblast growth factor-inducible 14 regulates satellite cell self-renewal and expansion during skeletal muscle repair.

Meiricris,Tomaz da Silva, Aniket S,Joshi, Ashok,Kumar

JCI insight · 2025-01-28

pmid:39874107

Fibroblast growth factor-inducible 14 regulates satellite cell self-renewal and expansion during skeletal muscle repair.

Meiricris,Tomaz da Silva, Aniket S,Joshi, Ashok,Kumar

bioRxiv : the preprint server for biology · 2025-01-02

pmid:39803454

Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells.

Luca,Caputo, Cedomir,Stamenkovic, Matthew T,Tierney, Maria Sofia,Falzarano, Rhonda,Bassel-Duby, Alessandra,Ferlini, Eric N,Olson, Pier Lorenzo,Puri, Alessandra,Sacco

bioRxiv : the preprint server for biology · 2024-12-10

pmid:39713478

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

Liqing,Chen, Xiaoping,Luo, Hongling,Wang, Yu,Tian, Yan,Liu

BMC medical genomics · 2024-09-09

pmid:39251998