MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
MDDGB5
MUSCULAR DYSTROPHY, CONGENITAL, 1C
MDC1C
Number of Symptoms 32
OrphanetNr:
OMIM Id: 606612
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:0000252) Microcephaly 832 / 7739
2
(HPO:0010628) Facial palsy 146 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0002359) Frequent falls 24 / 7739
5
(HPO:0002355) Difficulty walking 61 / 7739
6
(HPO:0002948) Vertebral fusion 28 / 7739
7
(HPO:0002808) Kyphosis 289 / 7739
8
(HPO:0001771) Achilles tendon contracture 27 / 7739
9
(HPO:0003307) Hyperlordosis 122 / 7739
10
(HPO:0002650) Scoliosis 705 / 7739
11
(HPO:0011968) Feeding difficulties 240 / 7739
12
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
13
(HPO:0003326) Myalgia 143 / 7739
14
(HPO:0001319) Neonatal hypotonia 101 / 7739
15
(HPO:0003551) Difficulty climbing stairs 23 / 7739
16
(HPO:0003324) Generalized muscle weakness 48 / 7739
17
(HPO:0003394) Muscle cramps 106 / 7739
18
(HPO:0003560) Muscular dystrophy 88 / 7739
19
(HPO:0007126) Proximal amyotrophy 29 / 7739
20
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
21
(HPO:0003701) Proximal muscle weakness 105 / 7739
22
(OMIM) Nodular heterotopia 4 / 7739
23
(OMIM) [DEL]EMG shows myopathic changes 27 / 7739
24
(OMIM) Decreased glycosylation of alpha-dystroglycan 6 / 7739
25
(HPO:0001272) Cerebellar atrophy 197 / 7739
26
(HPO:0002119) Ventriculomegaly 253 / 7739
27
(OMIM) White matter abnormalities on MRI 1 / 7739
28
(HPO:0001302) Pachygyria 60 / 7739
29
(OMIM) Some patients have neurologic involvement 1 / 7739
30
(HPO:0002350) Cerebellar cyst 14 / 7739
31
(HPO:0007227) Macrogyria 9 / 7739
32
(OMIM) Muscle MRI shows fatty infiltration 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as ...
Clinical Description OMIM Brockington et al. (2001) reported 7 families with a unique form of congenital muscular dystrophy, which they called MDC1C. Two families were consanguineous. Patients presented soon after birth with hypotonia and feeding difficulties. There was hypertrophy of the ...
Molecular genetics OMIM In 7 families with MDC1C, Brockington et al. (2001) identified 11 mutations in the FKRP gene (see, e.g., 606596.0001). Nine of the mutations were missense mutations and 2 were nonsense mutations. In 4 families, the affected individuals were ...