Bethlem myopathy

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, BENIGN CONGENITAL
MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
Benign autosomal dominant myopathy
Number of Symptoms 33
OrphanetNr: 610
OMIM Id: 158810
ICD-10: G71.0
UMLs: C1834674
MeSH: C535436
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.77 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Infancy
Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Progressive muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of collagen 6
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0005988) Congenital muscular torticollis 11 / 7739
2
(HPO:0000473) Torticollis 42 / 7739
3
(HPO:0001270) Motor delay 322 / 7739
4
(HPO:0001371) Flexion contracture 220 / 7739
5
(HPO:0006466) Ankle contracture 17 / 7739
6
(HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
7
(HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
8
(HPO:0002987) Elbow flexion contracture 64 / 7739
9
(HPO:0001558) Decreased fetal movement 74 / 7739
10
(HPO:0004326) Cachexia Very frequent [Orphanet] 71 / 7739
11
(HPO:0001626) Abnormality of the cardiovascular system 73 / 7739
12
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
13
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
14
(HPO:0001319) Neonatal hypotonia 101 / 7739
15
(HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
16
(HPO:0002460) Distal muscle weakness 122 / 7739
17
(HPO:0003701) Proximal muscle weakness 105 / 7739
18
(HPO:0003325) Limb-girdle muscle weakness 22 / 7739
19
(HPO:0003198) Myopathy Very frequent [Orphanet] 151 / 7739
20
(OMIM) Normal or increased serum creatine kinase 3 / 7739
21
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
(OMIM) Muscle biopsy shows nonspecific myopathic changes 2 / 7739
23
(OMIM) Muscle atrophy, mild, more proximal than distal 1 / 7739
24
(HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
25
(OMIM) Proximal muscle weakness more severe than distal muscle weakness 1 / 7739
26
(HPO:0003677) Slow progression 134 / 7739
27
(OMIM) Decreased fetal movements may occur 1 / 7739
28
(OMIM) No cardiac involvement 2 / 7739
29
(OMIM) Respiratory failure due to muscle weakness may occur in late stages 1 / 7739
30
(HPO:0003828) Variable expressivity 130 / 7739
31
(OMIM) Long finger flexion contractures of the last four fingers 1 / 7739
32
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
33
(OMIM) Extensor muscle weakness more severe than flexor muscle weakness 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Diagnosis OMIM Hicks et al. (2008) found that immunofluorescent labeling of collagen VI in skin biopsy-derived fibroblast cultures from patients suspected of having Bethlem myopathy was highly predictive of a COL6A mutation compared to immunofluorescence for collagen VI and basal ...
Clinical Description OMIM Bethlem and van Wijngaarden (1976) described 3 Dutch families in which 28 patients suffered from benign myopathy with autosomal dominant inheritance. The onset was in early infancy, progression was slow, and many patients reached an advanced age. The ...
Genotype-Phenotype Correlations OMIM Brinas et al. (2010) classified 49 patients with muscular dystrophy due to mutations in 1 of the 3 COL6A genes into 3 clinical groups: 9 (18%) had a severe phenotype with contractures and never achieved ambulation, 26 (53%) ...
Molecular genetics OMIM In affected members of a kindred with Bethlem myopathy, Jobsis et al. (1996) demonstrated a mutation in the COL6A1 gene (120220.0001). In affected members from 2 other kindreds, Jobsis et al. (1996) identified a mutation in the COL6A2 ...