Autosomal recessive limb-girdle muscular dystrophy type 2F

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2F
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Delta-sarcoglycanopathy
Number of Symptoms 13
OrphanetNr: 219
OMIM Id: 601287
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 2.3 of 100 000 - PMID: 21798091 [IBIS]
Inheritance: Autosomal recessive
- PMID: 21798091 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Neuromuscular disease with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Qualitative or quantitative defects of delta-sarcoglycan
 -Rare genetic disease

Comment:

In most sarcoglycanopathy patients, a primary loss or deficiency of anyone of the four SG proteins in the muscle (beta-SG and delta-SG in particular) leads to a secondary deficiency of the whole subcomplex (PMID:17265058).

Symptom Information: Sort by abundance 

1
 (HPO:0002355) Difficulty walking 10838250 IBIS 61 / 7739
2
 (HPO:0008981) Calf muscle hypertrophy 9832045 IBIS 28 / 7739
3
 (HPO:0001639) Hypertrophic cardiomyopathy 9832045 IBIS 137 / 7739
4
 (HPO:0001644) Dilated cardiomyopathy 21798091 IBIS 141 / 7739
5
 (HPO:0003236) Elevated serum creatine phosphokinase 10838250 IBIS 214 / 7739
6
 (HPO:0002093) Respiratory insufficiency 21798091 IBIS 410 / 7739
7
 (HPO:0003701) Proximal muscle weakness 21798091 IBIS 105 / 7739
8
 (HPO:0007126) Proximal amyotrophy 21798091 IBIS 29 / 7739
9
 (HPO:0003325) Limb-girdle muscle weakness 10838250 IBIS 22 / 7739
10
 (HPO:0003326) Myalgia 9832045 IBIS 143 / 7739
11
 (HPO:0003391) Gowers sign 9832045 IBIS 37 / 7739
12
 (HPO:0006785) Limb-girdle muscular dystrophy 9832045 IBIS 14 / 7739
13
 (HPO:0030110) Absent muscle fiber delta sarcoglycan 17265058 IBIS 1 / 7739

Associated genes:

SGCD;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SGCD rs121909295 pathogenic RCV000008650.3
SGCD rs121909296 pathogenic RCV000008651.3
SGCD rs121909297 pathogenic RCV000008652.3
SGCD rs267607045 pathogenic RCV000008656.4
SGCD rs397517921 likely pathogenic RCV000041405.2
SGCD rs727503422 likely pathogenic RCV000151871.1

Additional Information:

Clinical Description OMIM Nigro et al. (1996) reported 8 affected members of 4 Brazilian families with limb-girdle muscular dystrophy type 2F. Muscle biopsy performed on 3 unrelated patients showed a highly degenerated muscle with a myopathic pattern. Immunofluorescence studies on skeletal ...
Genotype-Phenotype Correlations OMIM Passos-Bueno et al. (1999) studied 140 patients from 40 Brazilian families with one of 7 autosomal recessive LGMDs. All LGMD2E (604286) and LGMD2F patients had a severe phenotype; considerable inter- and intrafamilial variability was observed in all other ...
Molecular genetics OMIM In 8 affected members from 4 LGMD2F families from Northern Brazil, Nigro et al. (1996) identified a homozygous 1-bp deletion in the SGCD gene (601411.0001).

Following up on the finding of SGCD mutations in Brazilian muscular ...