Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 21 |
| OrphanetNr: | 206546 |
| OMIM Id: |
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| ICD-10: |
G71.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 1 of 100 000 - PMID: 10382696 [IBIS] |
| Inheritance: |
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| Age of onset: |
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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:
| 2.5–7.8% of women are affected and are classified as symptomatic carriers. Age at symptom onset in the symptomatic female carriers ranged from 15 to 31 years and the age at diagnosis for asymptomatic carriers ranged from 4 to 38 years (PMID:26022459). Cardiac involvement is a frequent finding in female carriers of DMD, but less frequently observed in carriers of BMD. Female carriers of DMD and BMD with cardiac involvement demonstrate the same myocardial fibrosis pattern as their male counterparts with overt disease (PMID:26113120). |
Symptom Information:
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(HPO:0001685) | Myocardial fibrosis | Frequent [IBIS] | 44% (n=36) | 26113120 | IBIS | 30 / 7739 |
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(HPO:0012664) | Reduced ejection fraction | Occasional [IBIS] | 14% (n=36) | 26113120 | IBIS | 32 / 7739 |
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(HPO:0001249) | Intellectual disability | Frequent [IBIS] | 78% (n=9) | 25125379 | IBIS | 1089 / 7739 |
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(HPO:0000708) | Behavioral abnormality | Frequent [IBIS] | 56% (n=9) | 25125379 | IBIS | 212 / 7739 |
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(HPO:0030096) | Abnormal muscle fiber dystrophin expression | 25125379 | IBIS | 1 / 7739 | ||
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(HPO:0002527) | Falls | 25125379 | IBIS | 10 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 25125379 | IBIS | 853 / 7739 | ||
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(HPO:0001252) | Muscular hypotonia | 25125379 | IBIS | 990 / 7739 | ||
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(HPO:0002194) | Delayed gross motor development | 25125379 | IBIS | 37 / 7739 | ||
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(HPO:0001288) | Gait disturbance | Frequent [IBIS] | 33% (n=9) | 25125379 | IBIS | 318 / 7739 |
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(HPO:0003749) | Pelvic girdle muscle weakness | 10382696 | IBIS | 15 / 7739 | ||
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(HPO:0003547) | Shoulder girdle muscle weakness | 10382696 | IBIS | 21 / 7739 | ||
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(HPO:0001711) | Abnormality of the left ventricle | 10382696 | IBIS | 22 / 7739 | ||
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(HPO:0003391) | Gowers sign | 26022459 | IBIS | 37 / 7739 | ||
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(HPO:0001324) | Muscle weakness | Frequent [IBIS] | 56% (n=9) | 25125379 | IBIS | 859 / 7739 |
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(HPO:0007340) | Lower limb muscle weakness | 26022459 | IBIS | 61 / 7739 | ||
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(HPO:0003326) | Myalgia | 26022459 | IBIS | 143 / 7739 | ||
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(HPO:0003394) | Muscle cramps | 26022459 | IBIS | 106 / 7739 | ||
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(HPO:0003546) | Exercise intolerance | 26022459 | IBIS | 62 / 7739 | ||
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(HPO:0003236) | Elevated serum creatine phosphokinase | Frequent [IBIS] | 50% (n=36) | 26113120 | IBIS | 214 / 7739 |
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(HPO:0001644) | Dilated cardiomyopathy | 26022459 | IBIS | 141 / 7739 |
Associated genes:
| DMD; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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