MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 6

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, CONGENITAL, LARGE-RELATED
MDDGB6
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
MDC1D
Number of Symptoms 42
OrphanetNr:
OMIM Id: 608840
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:0000158) Macroglossia 119 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
4
 (HPO:0000666) Horizontal nystagmus 32 / 7739
5
 (HPO:0001270) Motor delay 322 / 7739
6
 (HPO:0003487) Babinski sign 179 / 7739
7
 (HPO:0001263) Global developmental delay 853 / 7739
8
 (HPO:0002395) Lower limb hyperreflexia 26 / 7739
9
 (HPO:0002187) Intellectual disability, profound 44 / 7739
10
 (HPO:0002987) Elbow flexion contracture 64 / 7739
11
 (HPO:0009473) Joint contracture of the hand 84 / 7739
12
 (HPO:0001771) Achilles tendon contracture 27 / 7739
13
 (HPO:0004322) Short stature 1232 / 7739
14
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
15
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
16
 (HPO:0003701) Proximal muscle weakness 105 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0003741) Congenital muscular dystrophy 22 / 7739
19
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
20
 (HPO:0001324) Muscle weakness 859 / 7739
21
 (HPO:0003560) Muscular dystrophy 88 / 7739
22
 (HPO:0010547) Muscle flaccidity 466 / 7739
23
 (HPO:0001252) Muscular hypotonia 990 / 7739
24
 (OMIM) Lower limbs more affected than upper limbs 5 / 7739
25
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
26
 (OMIM) Acquire ability to walk and jump in childhood, but motor regression occurs later 1 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (OMIM) Facial weakness, mild 6 / 7739
29
 (OMIM) Flexed fingers 3 / 7739
30
 (OMIM) Elbow contractures, mild 1 / 7739
31
 (HPO:0001302) Pachygyria 60 / 7739
32
 (OMIM) Pachygyria, frontoparietal 1 / 7739
33
 (OMIM) Decreased glycosylation of alpha-dystroglycan 6 / 7739
34
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
35
 (HPO:0002518) Abnormality of the periventricular white matter 24 / 7739
36
 (OMIM) Mental retardation, moderate to profound 2 / 7739
37
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
38
 (OMIM) Muscle weakness, predominantly proximal 4 / 7739
39
 (OMIM) Periventricular white matter changes 7 / 7739
40
 (HPO:0002269) Abnormality of neuronal migration 10 / 7739
41
 (HPO:0003593) Infantile onset 249 / 7739
42
 (OMIM) Achilles tendon contractures, mild 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as 'dystroglycanopathies' ...
Clinical Description OMIM Longman et al. (2003) identified 1 patient with LARGE-related congenital muscular dystrophy among 36 patients with congenital muscular dystrophy and either mental retardation, structural brain changes, or abnormal alpha-dystroglycan immunolabeling. The affected 17-year-old girl presented with congenital muscular ...
Molecular genetics OMIM In a patient with LARGE-related congenital muscular dystrophy, Longman et al. (2003) identified compound heterozygosity for 2 mutations in the LARGE gene (603590.0001-603590.0002).

In a patient with LARGE-related congenital muscular dystrophy, Clement et al. (2008) identified ...