Autosomal recessive limb-girdle muscular dystrophy type 2C

General Information (adopted from Orphanet):

Synonyms, Signs: DMDA1
SCARMD
LGMD2C
DMDA
Adhalin deficiency, secondary
Duchenne-like muscular dystrophy, autosomal recessive, type 1
Muscular dystrophy, duchenne-like
Sarcoglycan, gamma, deficiency of
Gamma-sarcoglycanopathy
Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
Maghrebian myopathy
Severe childhood autosomal recessive muscular dystrophy, North African type
Number of Symptoms 32
OrphanetNr: 353
OMIM Id: 253700
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.9 of 100 000
Inheritance: Autosomal recessive
11053682 [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 gamma-sarcoglycan
 -Rare genetic disease

Comment:

LGMD2C is common in the Maghreb and India for the high allele frequency of 525delT and in gypsies for the C283Y allele (PMID:24843229). 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:0000158) Macroglossia 10720277 IBIS 119 / 7739
2
 (HPO:0003722) Neck flexor weakness 11053682 IBIS 13 / 7739
3
 (HPO:0002317) Unsteady gait 11053682 IBIS 45 / 7739
4
 (HPO:0001771) Achilles tendon contracture 11053682 IBIS 27 / 7739
5
 (HPO:0003691) Scapular winging 10720277 IBIS 51 / 7739
6
 (HPO:0002938) Lumbar hyperlordosis Frequent [IBIS] 78% (n=9) 11053682 IBIS 73 / 7739
7
 (HPO:0003707) Calf muscle pseudohypertrophy Frequent [IBIS] 80% (n=10) 11053682 IBIS 8 / 7739
8
 (HPO:0002650) Scoliosis Frequent [IBIS] 33% (n=9) 11053682 IBIS 705 / 7739
9
 (HPO:0003307) Hyperlordosis 11053682 IBIS 122 / 7739
10
 (HPO:0011675) Arrhythmia 11053682 IBIS 226 / 7739
11
 (HPO:0001667) Right ventricular hypertrophy 11053682 IBIS 23 / 7739
12
 (HPO:0005162) Left ventricular failure Frequent [IBIS] 24464767 IBIS 18 / 7739
13
 (HPO:0005133) Right ventricular dilatation 11053682 IBIS 14 / 7739
14
 (HPO:0003236) Elevated serum creatine phosphokinase 11053682 IBIS 214 / 7739
15
 (HPO:0002111) Restrictive deficit on pulmonary function testing 24464767 IBIS 25 / 7739
16
 (HPO:0003701) Proximal muscle weakness 9885023 IBIS 105 / 7739
17
 (HPO:0006785) Limb-girdle muscular dystrophy 11053682 IBIS 14 / 7739
18
 (HPO:0003202) Skeletal muscle atrophy 11053682 IBIS 281 / 7739
19
 (HPO:0003391) Gowers sign 11053682 IBIS 37 / 7739
20
 (HPO:0009073) Progressive proximal muscle weakness 10720277 IBIS 8 / 7739
21
 (HPO:0003713) Muscle fiber necrosis 11053682 IBIS 8 / 7739
22
 (HPO:0100295) Muscle fiber atrophy 11053682 IBIS 22 / 7739
23
 (OMIM) Normal dystrophin immunostaining 11053682 IBIS 1 / 7739
24
 (OMIM) Muscle biopsy shows dystrophic pattern 11053682 IBIS 2 / 7739
25
 (OMIM) Patchy muscle fiber degeneration 11053682 IBIS 1 / 7739
26
 (OMIM) Progressive proximal muscle involvement 10720277 IBIS 1 / 7739
27
 (HPO:0030102) Reduced muscle fiber alpha sarcoglycan 11053682 IBIS 1 / 7739
28
 (OMIM) Abnormal precordial tall R waves on EKG 11053682 IBIS 2 / 7739
29
 (OMIM) Subclinical cardiac involvement in a subset of patients 11053682 IBIS 1 / 7739
30
 (OMIM) Loss of independent ambulation around age 12 years 11053682 IBIS 1 / 7739
31
 (HPO:0030109) Absent muscle fiber gamma sarcoglycan 11053682 IBIS 1 / 7739
32
 (OMIM) Absence of gamma-sarcoglycan protein 11053682 IBIS 2 / 7739

Associated genes:

SGCG;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Autosomal recessive inheritance of a muscular dystrophy resembling X-linked Duchenne muscular dystrophy (DMD; 310200) was reported by Kloepfer and Talley (1958), Dubowitz (1960), and Skyring and McKusick (1961), among others. The clinical course was characterized by onset before ...
Molecular genetics OMIM In 2 affected sibs from a Tunisian SCARMD family reported by Ben Othmane et al. (1992), Noguchi et al. (1995) identified a homozygous mutation in the SGCG gene (608896.0001). The authors noted that the mutation not only affects ...
Population genetics OMIM Zatz et al. (1989) studied 470 families in which X-linked inheritance of muscular dystrophy could not be confirmed: 20 with at least 1 affected girl with a Duchenne-like phenotype and 450 with only affected boys. Based on the ...