Autosomal recessive limb-girdle muscular dystrophy type 2O

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2O
MDDGC3
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2O
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED
Number of Symptoms 17
OrphanetNr: 206564
OMIM Id: 613157
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000545) Myopia 286 / 7739
2
 (HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
3
 (HPO:0012378) Fatigue 50 / 7739
4
 (HPO:0003307) Hyperlordosis 122 / 7739
5
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
6
 (HPO:0003551) Difficulty climbing stairs 23 / 7739
7
 (HPO:0003701) Proximal muscle weakness 105 / 7739
8
 (HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
9
 (HPO:0003391) Gowers sign 37 / 7739
10
 (HPO:0003560) Muscular dystrophy 88 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (OMIM) Biopsy shows dystrophic changes 1 / 7739
13
 (OMIM) Wasting of the proximal muscles 1 / 7739
14
 (OMIM) Decreased glycosylation of alpha-dystroglycan 6 / 7739
15
 (OMIM) Arflexia (1 patient) 1 / 7739
16
 (HPO:0003676) Progressive disorder 148 / 7739
17
 (OMIM) Distal joint contractures 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGC3 is a rare form of autosomal recessive limb-girdle muscular dystrophy with normal cognition (Clement et al., 2008). It is part of a group of similar disorders resulting from defective glycosylation of DAG1, collectively known as 'dystroglycanopathies' (Godfrey ...
Clinical Description OMIM Clement et al. (2008) reported an Irish girl with limb-girdle muscular dystrophy. She first developed proximal limb muscle weakness at age 12 years, showing difficulty rising from a sitting position and climbing stairs. The weakness progressed rapidly, and ...
Molecular genetics OMIM In an Irish girl with limb-girdle muscular dystrophy and normal intellect, Clement et al. (2008) identified a homozygous mutation in the POMGNT1 gene (D556N; 606822.0013).

In an 11-year-old Belgian boy with limb-girdle muscular dystrophy without brain ...