Duchenne muscular dystrophy

General Information (adopted from Orphanet):

Severe dystrophinopathy, Duchenne type
Number of Symptoms 42
OrphanetNr: 98896
OMIM Id: 310200
ICD-10: G71.0
UMLs: C0013264
MeSH: D020388
MedDRA: 10013801
Snomed: 76670001

Prevalence, inheritance and age of onset:

Prevalence: 4.78 of 100 000 - PMID: 24780148 [IBIS]
Inheritance: X-linked recessive
- PMID: 24780148 [IBIS]
Age of onset: Childhood
- PMID: 24780148 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Duchenne and Becker muscular dystrophy
 -Rare cardiac disease
 -Rare genetic disease
 -Rare neurologic disease
Myopathy with eye involvement
 -Rare eye disease
 -Rare genetic disease
Qualitative or quantitative defects of dystrophin
 -Rare genetic disease


DMD is typically diagnosed at around 5 years of age (PMID:19945913). At the beginning, the proximal lower limb muscles are affected followed by the shoulder muscles, by the distal limb muscle, and ultimately by the respiratory muscles (PMID:26451113).

Symptom Information: Sort by abundance 

(HPO:0000642) Red-green dyschromatopsia 17503325 IBIS 25 / 7739
(HPO:0002093) Respiratory insufficiency 24780148 IBIS 410 / 7739
(HPO:0001644) Dilated cardiomyopathy 23465426 IBIS 141 / 7739
(HPO:0002913) Myoglobinuria 17719224 IBIS 22 / 7739
(HPO:0011675) Arrhythmia 23465426 IBIS 226 / 7739
(HPO:0004308) Ventricular arrhythmia 23465426 IBIS 46 / 7739
(HPO:0001635) Congestive heart failure 23465426 IBIS 232 / 7739
(HPO:0001645) Sudden cardiac death 23465426 IBIS 84 / 7739
(HPO:0003236) Elevated serum creatine phosphokinase 24780148 IBIS 214 / 7739
(HPO:0003713) Muscle fiber necrosis 11879882 IBIS 8 / 7739
(HPO:0003202) Skeletal muscle atrophy 24780148 IBIS 281 / 7739
(HPO:0003693) Distal amyotrophy 26451113 IBIS 118 / 7739
(HPO:0003724) Shoulder girdle muscle atrophy 26451113 IBIS 14 / 7739
(HPO:0008956) Proximal lower limb amyotrophy 26451113 IBIS 5 / 7739
(HPO:0008981) Calf muscle hypertrophy 11879882 IBIS 28 / 7739
(HPO:0003560) Muscular dystrophy 24780148 IBIS 88 / 7739
(HPO:0001252) Muscular hypotonia 24711886 IBIS 990 / 7739
(HPO:0003551) Difficulty climbing stairs Frequent [IBIS] 40% (=20) 25187493 IBIS 23 / 7739
(HPO:0009046) Difficulty running 11879882 IBIS 17 / 7739
(HPO:0001324) Muscle weakness 24780148 IBIS 859 / 7739
(HPO:0002460) Distal muscle weakness 26451113 IBIS 122 / 7739
(HPO:0003325) Limb-girdle muscle weakness 26451113 IBIS 22 / 7739
(HPO:0003547) Shoulder girdle muscle weakness 26451113 IBIS 21 / 7739
(HPO:0003391) Gowers sign 11879882 IBIS 37 / 7739
(HPO:0008994) Proximal muscle weakness in lower limbs 26451113 IBIS 11 / 7739
(HPO:0002486) Myotonia 23465426 IBIS 29 / 7739
(HPO:0000708) Behavioral abnormality Occasional [IBIS] 20% (n=20) 25187493 IBIS 212 / 7739
(HPO:0007018) Attention deficit hyperactivity disorder Occasional [IBIS] 32% (n=103) 22560791 IBIS 56 / 7739
(HPO:0001249) Intellectual disability Occasional [IBIS] 23465426 IBIS 1089 / 7739
(HPO:0001270) Motor delay Very frequent [IBIS] 90% (n=20) 25187493 IBIS 322 / 7739
(HPO:0000750) Delayed speech and language development Frequent [IBIS] 45% (n=20) 25187493 IBIS 197 / 7739
(HPO:0002527) Falls Frequent [IBIS] 40% (=20) 25187493 IBIS 10 / 7739
(HPO:0002515) Waddling gait Frequent [IBIS] 55% (n=20) 25187493 IBIS 56 / 7739
(HPO:0001265) Hyporeflexia 24711886 IBIS 208 / 7739
(HPO:0003307) Hyperlordosis 24711886 IBIS 122 / 7739
(HPO:0002650) Scoliosis 24780148 IBIS 705 / 7739
(HPO:0003707) Calf muscle pseudohypertrophy 24780148 IBIS 8 / 7739
(HPO:0001371) Flexion contracture 24780148 IBIS 220 / 7739
(HPO:0002791) Hypoventilation 26451113 IBIS 10 / 7739
(HPO:0002877) Nocturnal hypoventilation 26451113 IBIS 9 / 7739
(HPO:0030097) Absent muscle dystrophin expression 12062251 IBIS 1 / 7739
(HPO:0002878) Respiratory failure 24780148 IBIS 57 / 7739

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DMD rs104894787 pathogenic RCV000011964.13
DMD rs104894790 pathogenic RCV000012024.4
DMD rs104894797 pathogenic RCV000012033.19
DMD rs1064325 pathogenic RCV000178001.1
DMD rs128625226 pathogenic RCV000011958.11
DMD rs128625227 pathogenic RCV000011960.9
DMD rs128625228 pathogenic RCV000011961.12
DMD rs128625229 pathogenic RCV000011962.18
DMD rs128625230 pathogenic RCV000011971.17
DMD rs128626231 pathogenic RCV000011979.11
DMD rs128626232 pathogenic RCV000011984.17
DMD rs128626233 pathogenic RCV000011990.11
DMD rs128626234 pathogenic RCV000011972.5
DMD rs128626235 pathogenic RCV000011976.13
DMD rs128626238 pathogenic RCV000011993.11
DMD rs128626239 pathogenic RCV000011994.17
DMD rs128626241 pathogenic RCV000011999.19
DMD rs128626242 pathogenic RCV000011996.3
DMD rs128626243 pathogenic RCV000012001.2
DMD rs128626244 pathogenic RCV000012002.5
DMD rs128626245 pathogenic RCV000012005.18
DMD rs128626246 pathogenic RCV000012006.5
DMD rs128626247 pathogenic RCV000012007.17
DMD rs128626248 pathogenic RCV000012008.5
DMD rs128626249 pathogenic RCV000012009.12
DMD rs128626250 pathogenic RCV000012011.19
DMD rs128626251 pathogenic RCV000012012.6
DMD rs128626252 pathogenic RCV000012014.2
DMD rs128626253 pathogenic RCV000012017.11
DMD rs128626254 pathogenic RCV000012021.9
DMD rs128627256 pathogenic RCV000012040.5
DMD rs128627257 pathogenic RCV000012042.17
DMD rs146071084 pathogenic RCV000176660.1
DMD rs146880270 likely pathogenic RCV000196412.1
DMD rs1800278 pathogenic RCV000012019.17
DMD rs199774535 pathogenic RCV000152880.3
DMD rs201361100 pathogenic RCV000179209.1
DMD rs201366610 pathogenic RCV000011973.12
DMD rs267606770 pathogenic RCV000011975.17
DMD rs373286166 pathogenic RCV000201160.1
DMD rs373804251 pathogenic RCV000178500.1
DMD rs398122853 pathogenic RCV000173322.2
DMD rs398123827 pathogenic RCV000179687.1
DMD rs398123828 pathogenic RCV000179689.1
DMD rs398123830 pathogenic RCV000173790.1
DMD rs398123832 pathogenic RCV000180030.2
DMD rs398123834 pathogenic RCV000201125.1
DMD rs398123834 pathogenic RCV000180032.1
DMD rs398123837 pathogenic RCV000180057.1
DMD rs398123839 pathogenic RCV000080421.4
DMD rs398123840 pathogenic RCV000173788.1
DMD rs398123852 pathogenic RCV000174090.1
DMD rs398123853 pathogenic RCV000174086.1
DMD rs398123854 pathogenic RCV000174093.1
DMD rs398123856 pathogenic RCV000174325.1
DMD rs398123857 pathogenic RCV000174321.1
DMD rs398123861 pathogenic RCV000174319.1
DMD rs398123862 pathogenic RCV000174327.1
DMD rs398123863 pathogenic RCV000174530.1
DMD rs398123865 pathogenic RCV000174745.2
DMD rs398123867 pathogenic RCV000175053.1
DMD rs398123870 pathogenic RCV000175055.1
DMD rs398123872 pathogenic RCV000175182.1
DMD rs398123875 pathogenic RCV000175180.1
DMD rs398123882 pathogenic RCV000175443.1
DMD rs398123883 pathogenic RCV000175441.1
DMD rs398123884 pathogenic RCV000175445.1
DMD rs398123887 pathogenic RCV000176072.1
DMD rs398123888 pathogenic RCV000176074.1
DMD rs398123895 pathogenic RCV000176076.1
DMD rs398123903 pathogenic RCV000176203.1
DMD rs398123908 pathogenic RCV000176205.1
DMD rs398123909 pathogenic RCV000176302.1
DMD rs398123910 pathogenic RCV000176300.1
DMD rs398123913 pathogenic RCV000173321.1
DMD rs398123923 pathogenic RCV000173324.1
DMD rs398123929 pathogenic RCV000201197.1
DMD rs398123934 pathogenic RCV000176479.1
DMD rs398123935 pathogenic RCV000176553.1
DMD rs398123936 pathogenic RCV000178885.1
DMD rs398123937 pathogenic RCV000176555.2
DMD rs398123942 pathogenic RCV000176666.1
DMD rs398123943 pathogenic RCV000176742.1
DMD rs398123945 pathogenic RCV000176744.1
DMD rs398123946 pathogenic RCV000176740.1
DMD rs398123948 pathogenic RCV000177468.1
DMD rs398123949 pathogenic RCV000179429.1
DMD rs398123953 pathogenic RCV000201013.1
DMD rs398123957 pathogenic RCV000177650.1
DMD rs398123961 pathogenic RCV000177742.1
DMD rs398123962 pathogenic RCV000177744.1
DMD rs398123979 pathogenic RCV000177876.1
DMD rs398123981 pathogenic RCV000177912.2
DMD rs398123993 pathogenic RCV000178432.1
DMD rs398123997 pathogenic RCV000201201.1
DMD rs398123999 pathogenic RCV000179875.2
DMD rs398124001 pathogenic RCV000178496.1
DMD rs398124002 pathogenic RCV000178498.1
DMD rs398124004 pathogenic RCV000179873.1
DMD rs398124005 pathogenic RCV000178527.1
DMD rs398124032 pathogenic RCV000179877.1
DMD rs398124036 pathogenic RCV000178630.1
DMD rs398124040 pathogenic RCV000201002.1
DMD rs398124042 pathogenic RCV000178691.1
DMD rs398124044 pathogenic RCV000179071.1
DMD rs398124050 pathogenic RCV000179107.1
DMD rs398124052 pathogenic RCV000179126.1
DMD rs398124053 pathogenic RCV000179124.1
DMD rs398124058 pathogenic RCV000179149.1
DMD rs398124060 pathogenic RCV000179166.1
DMD rs398124070 pathogenic RCV000179178.1
DMD rs398124072 pathogenic RCV000201168.1
DMD rs398124074 pathogenic RCV000179204.2
DMD rs398124075 pathogenic RCV000179206.1
DMD rs398124078 pathogenic RCV000179223.1
DMD rs398124080 pathogenic RCV000179588.1
DMD rs398124082 pathogenic RCV000152758.3
DMD rs398124091 pathogenic RCV000179616.1
DMD rs398124092 pathogenic RCV000179641.2
DMD rs398124094 pathogenic RCV000179643.1
DMD rs398124094 pathogenic RCV000179639.1
DMD rs398124096 pathogenic RCV000179663.1
DMD rs398124100 pathogenic RCV000179671.1
DMD rs398124106 pathogenic RCV000179678.1
DMD rs41305353 pathogenic RCV000012018.5
DMD rs5030730 pathogenic RCV000201024.1
DMD rs72468700 pathogenic RCV000174323.1
DMD rs727503802 pathogenic RCV000152767.3
DMD rs727503830 pathogenic RCV000177781.1
DMD rs727503836 pathogenic RCV000152917.3
DMD rs727503844 pathogenic RCV000152954.3
DMD rs727503850 pathogenic RCV000152963.3
DMD rs727503858 pathogenic RCV000153000.3
DMD rs727503864 pathogenic RCV000153012.3
DMD rs754896795 pathogenic RCV000178663.1
DMD rs756949497 pathogenic RCV000201047.1
DMD rs762394978 pathogenic RCV000201144.1
DMD rs762860653 pathogenic RCV000201099.1
DMD rs777864641 pathogenic RCV000201039.1
DMD rs794726993 pathogenic RCV000173785.1
DMD rs794726994 pathogenic RCV000173792.1
DMD rs794727030 pathogenic RCV000174087.1
DMD rs794727097 pathogenic RCV000174531.1
DMD rs794727123 pathogenic RCV000174743.1
DMD rs794727170 pathogenic RCV000175050.1
DMD rs794727322 pathogenic RCV000176068.1
DMD rs794727323 pathogenic RCV000176079.1
DMD rs794727357 pathogenic RCV000201191.1
DMD rs794727357 pathogenic RCV000176298.1
DMD rs794727358 pathogenic RCV000176303.1
DMD rs794727359 pathogenic RCV000176305.1
DMD rs794727421 pathogenic RCV000176658.1
DMD rs794727422 pathogenic RCV000176662.1
DMD rs794727463 pathogenic RCV000176871.1
DMD rs794727499 pathogenic RCV000177187.1
DMD rs794727550 pathogenic RCV000177555.1
DMD rs794727567 pathogenic RCV000177740.1
DMD rs794727575 pathogenic RCV000177779.1
DMD rs794727661 pathogenic RCV000178433.1
DMD rs794727666 pathogenic RCV000178462.1
DMD rs794727672 pathogenic RCV000178528.1
DMD rs794727746 pathogenic RCV000179075.1
DMD rs794727749 pathogenic RCV000179092.1
DMD rs794727763 pathogenic RCV000179163.1
DMD rs794727770 pathogenic RCV000179225.1
DMD rs794727795 pathogenic RCV000179426.1
DMD rs794727820 pathogenic RCV000179602.1
DMD rs794727832 pathogenic RCV000179684.1
DMD rs794727861 pathogenic RCV000179864.1
DMD rs794727862 pathogenic RCV000179868.1
DMD rs794727863 pathogenic RCV000179871.1
DMD rs794727890 pathogenic RCV000180067.1
DMD rs796065325 pathogenic RCV000173319.1
DMD rs796065333 pathogenic RCV000179866.1
DMD rs797044743 pathogenic RCV000178600.1
DMD rs797044756 pathogenic RCV000178886.1
DMD rs797044764 pathogenic RCV000179072.1
DMD rs797045526 likely pathogenic RCV000192688.1

Additional Information:

Description: (OMIM) Dystrophin-associated muscular dystrophies range from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy (BMD; 300376). Mapping and molecular genetic studies indicate that both are the result of mutations in the huge gene that encodes ...
Diagnosis OMIM - Symptomatic Hemizygotes

Clinical diagnosis of males affected with DMD is straightforward. Gait difficulty beginning at age three, progressive myopathic weakness with pseudohypertrophy of calves and massive elevations of serum levels of creatine kinase permit diagnosis. ...

Clinical Description OMIM - Skeletal Muscle

The most distinctive feature of Duchenne muscular dystrophy is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. The bulbar (extraocular) muscles are spared but the myocardium is affected. There is ...

Molecular genetics OMIM Tuffery-Giraud et al. (2009) described a French database for mutations in the DMD gene that includes 2,411 entries consisting of 2,084 independent mutation events identified in 2,046 male patients and 38 expressing females. This corresponds to an estimated ...
Population genetics OMIM In a 12-year prospective study in the Campania region of southern Italy, Nigro et al. (1983) found an incidence of DMD of 21.7 per 100,000 male live births and of BMD of 3.2 per 100,000. The latter might ...