Becker muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: BMD
Becker dystrophinopathy
Number of Symptoms 23
OrphanetNr: 98895
OMIM Id: 159050
300376
ICD-10: G71.0
UMLs: C0917713
MeSH: C537666
MedDRA: 10059117
Snomed: 387732009

Prevalence, inheritance and age of onset:

Prevalence: 1.53 of 100 000 - PMID: 24780148 [IBIS]
Inheritance: X-linked recessive
- PMID: 24780148 [IBIS]
Age of onset: Childhood
- PMID: 11879882 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Becker muscular dystrophy (BMD) is a generally milder and more variable form of dystrophinopathy (PMID:24780148). Predominant weakness and atrophy of biceps brachii, hip adduction, and quadriceps muscles was noted (PMID:26179421.

Symptom Information: Sort by abundance 

1
 (HPO:0001315) Reduced tendon reflexes 26179421 IBIS 160 / 7739
2
 (HPO:0008959) Distal upper limb muscle weakness 26179421 IBIS 3 / 7739
3
 (HPO:0008994) Proximal muscle weakness in lower limbs 26179421 IBIS 11 / 7739
4
 (HPO:0008997) Proximal muscle weakness in upper limbs 26179421 IBIS 4 / 7739
5
 (HPO:0030237) Hand muscle weakness 26179421 IBIS 4 / 7739
6
 (HPO:0003325) Limb-girdle muscle weakness 26179421 IBIS 22 / 7739
7
 (HPO:0003797) Limb-girdle muscle atrophy 26179421 IBIS 8 / 7739
8
 (HPO:0003546) Exercise intolerance 26179421 IBIS 62 / 7739
9
 (HPO:0003201) Rhabdomyolysis 26179421 IBIS 27 / 7739
10
 (HPO:0003394) Muscle cramps Frequent [IBIS] 8437027 IBIS 106 / 7739
11
 (HPO:0002913) Myoglobinuria 22980760 IBIS 22 / 7739
12
 (HPO:0030098) Reduced muscle dystrophin expression 12062251 IBIS 1 / 7739
13
 (HPO:0003236) Elevated serum creatine phosphokinase 23465426 IBIS 214 / 7739
14
 (HPO:0001324) Muscle weakness 23465426 IBIS 859 / 7739
15
 (HPO:0003202) Skeletal muscle atrophy 23465426 IBIS 281 / 7739
16
 (HPO:0001644) Dilated cardiomyopathy 23465426 IBIS 141 / 7739
17
 (HPO:0004308) Ventricular arrhythmia 23465426 IBIS 46 / 7739
18
 (HPO:0011675) Arrhythmia 23465426 IBIS 226 / 7739
19
 (HPO:0002486) Myotonia 23465426 IBIS 29 / 7739
20
 (HPO:0001645) Sudden cardiac death 23465426 IBIS 84 / 7739
21
 (HPO:0003560) Muscular dystrophy 23465426 IBIS 88 / 7739
22
 (HPO:0008981) Calf muscle hypertrophy 25455304 IBIS 28 / 7739
23
 (HPO:0003707) Calf muscle pseudohypertrophy 25455304 IBIS 8 / 7739

Associated genes:

DMD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
DMD rs104894787 pathogenic RCV000180033.1
DMD rs104894791 pathogenic RCV000012027.9
DMD rs104894797 pathogenic RCV000179664.1
DMD rs1064325 pathogenic RCV000178000.1
DMD rs128626236 pathogenic RCV000011981.17
DMD rs128626237 pathogenic RCV000011992.17
DMD rs128626251 pathogenic RCV000178554.1
DMD rs128627256 pathogenic RCV000179221.1
DMD rs146071084 pathogenic RCV000176661.1
DMD rs1800279 pathogenic RCV000012020.17
DMD rs199774535 pathogenic RCV000152879.3
DMD rs201361100 pathogenic RCV000179208.1
DMD rs267606771 pathogenic RCV000012031.17
DMD rs373286166 likely pathogenic RCV000149882.1
DMD rs373804251 pathogenic RCV000178499.1
DMD rs398122853 pathogenic RCV000022854.18
DMD rs398123827 pathogenic RCV000179686.1
DMD rs398123828 pathogenic RCV000179688.1
DMD rs398123830 pathogenic RCV000173789.1
DMD rs398123832 pathogenic RCV000180029.1
DMD rs398123834 pathogenic RCV000180031.1
DMD rs398123837 pathogenic RCV000180056.1
DMD rs398123840 pathogenic RCV000173787.1
DMD rs398123852 pathogenic RCV000174089.1
DMD rs398123853 pathogenic RCV000174085.1
DMD rs398123854 pathogenic RCV000174092.1
DMD rs398123856 pathogenic RCV000174324.1
DMD rs398123857 pathogenic RCV000174320.1
DMD rs398123861 pathogenic RCV000174318.1
DMD rs398123862 pathogenic RCV000174326.1
DMD rs398123863 pathogenic RCV000174529.1
DMD rs398123865 pathogenic RCV000174744.1
DMD rs398123867 pathogenic RCV000175052.1
DMD rs398123870 pathogenic RCV000175054.1
DMD rs398123872 pathogenic RCV000175181.1
DMD rs398123875 pathogenic RCV000175179.1
DMD rs398123882 pathogenic RCV000175442.1
DMD rs398123883 pathogenic RCV000175440.1
DMD rs398123884 pathogenic RCV000175444.1
DMD rs398123887 pathogenic RCV000176071.1
DMD rs398123888 pathogenic RCV000176073.1
DMD rs398123895 pathogenic RCV000176075.1
DMD rs398123903 pathogenic RCV000176202.1
DMD rs398123908 pathogenic RCV000176206.1
DMD rs398123909 pathogenic RCV000176301.1
DMD rs398123910 pathogenic RCV000176299.1
DMD rs398123913 pathogenic RCV000173320.1
DMD rs398123923 pathogenic RCV000173323.1
DMD rs398123934 pathogenic RCV000176478.1
DMD rs398123935 pathogenic RCV000176552.1
DMD rs398123936 pathogenic RCV000178884.1
DMD rs398123937 pathogenic RCV000176554.1
DMD rs398123942 pathogenic RCV000176665.1
DMD rs398123943 pathogenic RCV000176741.1
DMD rs398123945 pathogenic RCV000176743.1
DMD rs398123946 pathogenic RCV000176739.1
DMD rs398123948 pathogenic RCV000177467.1
DMD rs398123949 pathogenic RCV000179428.1
DMD rs398123957 pathogenic RCV000177649.1
DMD rs398123961 pathogenic RCV000177741.1
DMD rs398123962 pathogenic RCV000177743.1
DMD rs398123979 pathogenic RCV000177875.1
DMD rs398123981 pathogenic RCV000177911.1
DMD rs398123993 pathogenic RCV000178431.1
DMD rs398123999 pathogenic RCV000179874.1
DMD rs398124001 pathogenic RCV000178495.1
DMD rs398124002 pathogenic RCV000178497.1
DMD rs398124004 pathogenic RCV000179872.1
DMD rs398124005 pathogenic RCV000178526.1
DMD rs398124032 pathogenic RCV000179876.1
DMD rs398124036 pathogenic RCV000178629.1
DMD rs398124042 pathogenic RCV000178690.1
DMD rs398124044 pathogenic RCV000179070.1
DMD rs398124050 pathogenic RCV000179106.1
DMD rs398124052 pathogenic RCV000179125.1
DMD rs398124053 pathogenic RCV000179123.1
DMD rs398124058 pathogenic RCV000179148.1
DMD rs398124060 pathogenic RCV000179165.1
DMD rs398124070 pathogenic RCV000179177.1
DMD rs398124074 pathogenic RCV000179203.1
DMD rs398124075 pathogenic RCV000179205.1
DMD rs398124078 pathogenic RCV000179222.1
DMD rs398124080 pathogenic RCV000179587.1
DMD rs398124082 pathogenic RCV000152757.3
DMD rs398124091 pathogenic RCV000179615.1
DMD rs398124092 pathogenic RCV000179640.1
DMD rs398124094 pathogenic RCV000179642.1
DMD rs398124094 pathogenic RCV000179638.1
DMD rs398124096 pathogenic RCV000179662.1
DMD rs398124100 pathogenic RCV000179670.1
DMD rs398124106 pathogenic RCV000179677.1
DMD rs5030730 pathogenic RCV000012034.17
DMD rs587776747 pathogenic RCV000012038.5
DMD rs72468700 pathogenic RCV000174322.1
DMD rs727503802 pathogenic RCV000152766.3
DMD rs727503830 pathogenic RCV000177782.1
DMD rs727503836 pathogenic RCV000152916.3
DMD rs727503844 pathogenic RCV000152955.3
DMD rs727503850 pathogenic RCV000152962.3
DMD rs727503858 pathogenic RCV000152999.3
DMD rs727503864 pathogenic RCV000153011.3
DMD rs754896795 pathogenic RCV000178664.1
DMD rs794726993 pathogenic RCV000173786.1
DMD rs794726994 pathogenic RCV000173791.1
DMD rs794727030 pathogenic RCV000174088.1
DMD rs794727097 pathogenic RCV000174532.1
DMD rs794727123 pathogenic RCV000174742.1
DMD rs794727170 pathogenic RCV000175051.1
DMD rs794727322 pathogenic RCV000176069.1
DMD rs794727357 pathogenic RCV000176296.1
DMD rs794727358 pathogenic RCV000176304.1
DMD rs794727359 pathogenic RCV000176306.1
DMD rs794727421 pathogenic RCV000176659.1
DMD rs794727422 pathogenic RCV000176663.1
DMD rs794727463 pathogenic RCV000176872.1
DMD rs794727499 pathogenic RCV000177188.1
DMD rs794727550 pathogenic RCV000177554.1
DMD rs794727567 pathogenic RCV000177739.1
DMD rs794727575 pathogenic RCV000177780.1
DMD rs794727661 pathogenic RCV000178434.1
DMD rs794727672 pathogenic RCV000178529.1
DMD rs794727746 pathogenic RCV000179074.1
DMD rs794727749 pathogenic RCV000179091.1
DMD rs794727763 pathogenic RCV000179164.1
DMD rs794727770 pathogenic RCV000179224.1
DMD rs794727795 pathogenic RCV000179427.1
DMD rs794727820 pathogenic RCV000179603.1
DMD rs794727832 pathogenic RCV000179685.1
DMD rs794727861 pathogenic RCV000179865.1
DMD rs794727862 pathogenic RCV000179869.1
DMD rs794727890 pathogenic RCV000180065.1
DMD rs796065325 pathogenic RCV000173318.1
DMD rs796065333 pathogenic RCV000179867.1
DMD rs797044743 pathogenic RCV000178601.1
DMD rs797044756 pathogenic RCV000178887.1
DMD rs797044764 pathogenic RCV000179073.1

Additional Information: