[DEL] MUSCULAR DYSTROPHY, BECKER TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: BECKER MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
BMD
Number of Symptoms 13
OrphanetNr:
OMIM Id: 300376
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001265) Hyporeflexia 208 / 7739
2
(HPO:0003707) Calf muscle pseudohypertrophy 8 / 7739
3
(HPO:0011675) Arrhythmia 226 / 7739
4
(HPO:0001638) Cardiomyopathy 192 / 7739
5
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
(HPO:0003326) Myalgia 143 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(HPO:0003560) Muscular dystrophy 88 / 7739
9
(OMIM) Abnormal dystrophin on muscle biopsy 1 / 7739
10
(OMIM) Cardiomyopathy, late onset 1 / 7739
11
(HPO:0003581) Adult onset 117 / 7739
12
(OMIM) Calf and thigh cramping muscle pains 1 / 7739
13
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, which is mainly proximal, but the course is more benign, with age of onset around 12 ...
Clinical Description OMIM Bush and Dubowitz (1991) described fatal rhabdomyolysis complicating general anesthesia in a child with Becker muscular dystrophy. Exertional cramping and probable myoglobinuria was described by Bushby et al. (1991) in a patient with atypical Becker muscular dystrophy (see ...
Molecular genetics OMIM Monaco et al. (1988) provided an explanation for the phenotypic differences between DMD and BMD: although no fundamental difference in the size of deletions at the locus appeared to be present in the 2 forms of disease, the ...
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 ...