Autosomal recessive limb-girdle muscular dystrophy type 2T

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2T
MDDGC14
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, GMPPB-RELATED
LGMD2T
Number of Symptoms 21
OrphanetNr: 363623
OMIM Id: 615352
ICD-10: G71.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly 832 / 7739
2
 (HPO:0010697) Anterior pyramidal cataract 22 / 7739
3
 (HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
4
 (HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
5
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
6
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
7
 (HPO:0001256) Intellectual disability, mild rare [HPO:skoehler] 141 / 7739
8
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
9
 (HPO:0001638) Cardiomyopathy rare [HPO:skoehler] 192 / 7739
10
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
 (HPO:0002093) Respiratory insufficiency rare [HPO:skoehler] 410 / 7739
12
 (HPO:0003546) Exercise intolerance 62 / 7739
13
 (HPO:0010547) Muscle flaccidity 466 / 7739
14
 (HPO:0003560) Muscular dystrophy 88 / 7739
15
 (HPO:0001252) Muscular hypotonia 990 / 7739
16
 (HPO:0001324) Muscle weakness 859 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0003701) Proximal muscle weakness 105 / 7739
19
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
 (HPO:0003812) Phenotypic variability 129 / 7739
21
 (OMIM) Muscle biopsy shows hypoglycosylation of alpha-dystroglycan 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGC14 is an autosomal recessive form of muscular dystrophy characterized by onset in early childhood of mild proximal muscle weakness. Some patients may have additional features, such as mild intellectual disability or seizures. It is part of a ...
Clinical Description OMIM Carss et al. (2013) reported 3 unrelated patients with limb-girdle muscular dystrophy. The patients were of Indian, English, and Egyptian descent, and the phenotype was variable. A 12-year-old girl (P2) presented at birth with hypotonia and microcephaly. She ...
Molecular genetics OMIM In 3 unrelated patients with MDDGC14, Carss et al. (2013) identified homozygous or compound heterozygous mutations in the GMPPB gene (615320.0001, 615320.0003, 615320.0004, and 615320.0007-615320.0008). The initial mutations were found by exome sequencing.