MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION),TYPE B, 4

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGB4
MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
Number of Symptoms 11
OrphanetNr:
OMIM Id: 613152
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001270) Motor delay 322 / 7739
2
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
3
(HPO:0001324) Muscle weakness 859 / 7739
4
(HPO:0001252) Muscular hypotonia 990 / 7739
5
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
6
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
7
(HPO:0010547) Muscle flaccidity 466 / 7739
8
(HPO:0003560) Muscular dystrophy 88 / 7739
9
(OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
10
(HPO:0003593) Infantile onset 249 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB4 is a rare autosomal recessive congenital muscular dystrophy that is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathyies.' In contrast to most dystroglycanopathies, mental retardation is not a ...
Clinical Description OMIM Godfrey et al. (2007) identified 1 patient with FKTN-related congenital muscular dystrophy among 92 probands with muscular dystrophy and evidence of a dystroglycanopathy. Although clinical details were limited, the age at onset was noted as 3 years, and ...
Molecular genetics OMIM Mercuri et al. (2009) identified compound heterozygosity for 2 mutations in the FKTN gene (R307Q; 607440.0009 and 42delG; 607440.0019) in 1 of 81 Italian patients with congenital muscular dystrophy associated with defective glycosylation of alpha-dystroglycan. The patient did ...