MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 30
OrphanetNr:
OMIM Id: 609456
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000467) Neck muscle weakness 29 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0001371) Flexion contracture 220 / 7739
4
(HPO:0002650) Scoliosis 705 / 7739
5
(HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
6
(HPO:0001388) Joint laxity 117 / 7739
7
(HPO:0001558) Decreased fetal movement 74 / 7739
8
(HPO:0008180) Mildly elevated creatine phosphokinase 28 / 7739
9
(HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
10
(HPO:0003560) Muscular dystrophy 88 / 7739
11
(HPO:0003701) Proximal muscle weakness 105 / 7739
12
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
13
(HPO:0003557) Increased variability in muscle fiber diameter 24 / 7739
14
(HPO:0001319) Neonatal hypotonia 101 / 7739
15
(HPO:0003198) Myopathy 151 / 7739
16
(OMIM) Muscle weakness of the trunk 1 / 7739
17
(OMIM) Poor muscle build 1 / 7739
18
(OMIM) Neck muscle weakness, mild to moderate 1 / 7739
19
(HPO:0003828) Variable expressivity 130 / 7739
20
(OMIM) Increased joint laxity, mild 1 / 7739
21
(HPO:0003577) Congenital onset 133 / 7739
22
(OMIM) Contractures may develop later in life 1 / 7739
23
(OMIM) Delayed walking 13 / 7739
24
(OMIM) Facial muscle weakness, mild to moderate 1 / 7739
25
(OMIM) Muscle biopsy is immunopositive for merosin (156225) 1 / 7739
26
(OMIM) Muscle biopsy showed myopathic changes 5 / 7739
27
(OMIM) Muscle weakness, proximal limb muscle, mild to moderate 1 / 7739
28
(OMIM) Muscle weakness of the face and neck, mild to moderate 1 / 7739
29
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
30
(OMIM) Normal or mildly increased serum creatine kinase 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mahjneh et al. (1992) reported a large consanguineous Palestinian family in which 10 individuals had congenital muscular dystrophy with generalized muscle weakness and hypotonia since birth, but without arthrogryposis or central nervous system involvement. Interestingly, 9 additional family ...