Congenital muscular dystrophy type 1B

General Information (adopted from Orphanet):

Synonyms, Signs: MDC1B
CMD1B
Number of Symptoms 21
OrphanetNr: 98893
OMIM Id: 604801
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0001270) Motor delay 322 / 7739
3
 (HPO:0003306) Spinal rigidity 30 / 7739
4
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
5
 (HPO:0001771) Achilles tendon contracture 27 / 7739
6
 (HPO:0009113) Diaphragmatic weakness 12 / 7739
7
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
8
 (HPO:0002878) Respiratory failure 10677302 IBIS 57 / 7739
9
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
10
 (HPO:0012037) Pectoralis amyotrophy 1 / 7739
11
 (HPO:0001290) Generalized hypotonia 51 / 7739
12
 (HPO:0003325) Limb-girdle muscle weakness 22 / 7739
13
 (HPO:0012036) Sternocleidomastoid amyotrophy 2 / 7739
14
 (HPO:0003391) Gowers sign 37 / 7739
15
 (HPO:0003720) Generalized muscle hypertrophy 8 / 7739
16
 (OMIM) Wasting of pectoralis muscles 1 / 7739
17
 (OMIM) Wasting of sternocleidomastoid muscles 1 / 7739
18
 (OMIM) Dystrophic changes on biopsy 1 / 7739
19
 (OMIM) Deficiency of laminin alpha-2 chain of merosin (LAMA2, 156225) in muscle 1 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Involvement of diaphragm 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Muntoni et al. (1998) described a form of congenital muscular dystrophy characterized by proximal muscle weakness, muscle hypertrophy, and early respiratory failure in a consanguineous family from the United Arab Emirates. The pattern of inheritance was clearly autosomal ...