Autosomal recessive limb-girdle muscular dystrophy type 2S

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2S
Number of Symptoms 25
OrphanetNr: 369840
OMIM Id: 615356
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: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000545) Myopia 286 / 7739
3
(HPO:0000486) Strabismus 576 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0001263) Global developmental delay 853 / 7739
6
(HPO:0002305) Athetosis 31 / 7739
7
(HPO:0001251) Ataxia 413 / 7739
8
(HPO:0001337) Tremor 200 / 7739
9
(HPO:0002072) Chorea 53 / 7739
10
(HPO:0001332) Dystonia 197 / 7739
11
(HPO:0001385) Hip dysplasia 242 / 7739
12
(HPO:0002650) Scoliosis 705 / 7739
13
(HPO:0004322) Short stature 1232 / 7739
14
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
15
(HPO:0001324) Muscle weakness 859 / 7739
16
(HPO:0006785) Limb-girdle muscular dystrophy 14 / 7739
17
(HPO:0003701) Proximal muscle weakness 105 / 7739
18
(HPO:0003326) Myalgia 143 / 7739
19
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
20
(HPO:0001252) Muscular hypotonia 990 / 7739
21
(HPO:0003394) Muscle cramps 106 / 7739
22
(HPO:0010547) Muscle flaccidity 466 / 7739
23
(HPO:0003812) Phenotypic variability 129 / 7739
24
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
(OMIM) Hyperkinetic movements 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, ...
Clinical Description OMIM Bogershausen et al. (2013) reported a consanguineous Syrian family in which 3 girls had progressive proximal muscle weakness resulting in impaired ambulation. The girls were 16, 20, and 26 years of age at the time of the report, ...
Molecular genetics OMIM By whole-exome sequencing combined with linkage analysis of a Syrian family with LGMD, Bogershausen et al. (2013) identified a homozygous mutation in the TRAPPC11 gene (G980R; 614138.0001). The same technique revealed a different homozygous mutation in the TRAPPC11 ...