Autosomal recessive limb-girdle muscular dystrophy type 2D

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2D
DMDA2
Duchenne-like autosomal recessive muscular dystrophy, type 2
adhalinopathy, primary
Alpha-sarcoglycanopathy
Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency
Number of Symptoms 25
OrphanetNr: 62
OMIM Id: 608099
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
25050186 [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 alpha-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:0002913) Myoglobinuria 23989969 IBIS 22 / 7739
2
 (HPO:0002317) Unsteady gait 24742800 IBIS 45 / 7739
3
 (HPO:0003691) Scapular winging 24742800 IBIS 51 / 7739
4
 (HPO:0002650) Scoliosis 18996010 IBIS 705 / 7739
5
 (HPO:0003707) Calf muscle pseudohypertrophy 24742800 IBIS 8 / 7739
6
 (HPO:0003307) Hyperlordosis 24742800 IBIS 122 / 7739
7
 (HPO:0001771) Achilles tendon contracture 24742800 IBIS 27 / 7739
8
 (HPO:0005162) Left ventricular failure occasional [IBIS] 24464767 IBIS 18 / 7739
9
 (HPO:0001637) Abnormality of the myocardium 24464767 IBIS 76 / 7739
10
 (HPO:0001638) Cardiomyopathy 24464767 IBIS 192 / 7739
11
 (HPO:0003236) Elevated serum creatine phosphokinase 25050186 IBIS 214 / 7739
12
 (HPO:0002093) Respiratory insufficiency 15298081 IBIS 410 / 7739
13
 (HPO:0003797) Limb-girdle muscle atrophy 25050186 IBIS 8 / 7739
14
 (HPO:0006785) Limb-girdle muscular dystrophy 25050186 IBIS 14 / 7739
15
 (HPO:0003325) Limb-girdle muscle weakness 25050186 IBIS 22 / 7739
16
 (HPO:0003738) Exercise-induced myalgia 26453141 IBIS 19 / 7739
17
 (HPO:0003201) Rhabdomyolysis 26453141 IBIS 27 / 7739
18
 (HPO:0003458) EMG: myopathic abnormalities 24742800 IBIS 38 / 7739
19
 (HPO:0003701) Proximal muscle weakness 25050186 IBIS 105 / 7739
20
 (HPO:0030101) Absent muscle fiber alpha sarcoglycan 25050186 IBIS 1 / 7739
21
 (OMIM) Necrosis and degeneration seen on muscle biopsy 24742800 IBIS 1 / 7739
22
 (OMIM) Decreased immunostaining for alpha-sarcoglycan 25050186 IBIS 1 / 7739
23
 (OMIM) Absence of gamma-sarcoglycan protein 24742800 IBIS 2 / 7739
24
 (HPO:0030099) Reduced muscle fiber alpha dystroglycan 10842281 IBIS 2 / 7739
25
 (HPO:0030051) Tip-toe gait Frequent [IBIS] 57% (n=16) 22012042 IBIS 10 / 7739

Associated genes:

SGCA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
SGCA rs137852622 pathogenic RCV000010043.3
SGCA rs143570936 pathogenic RCV000179241.2
SGCA rs28933693 pathogenic RCV000010044.6
SGCA rs387907298 pathogenic RCV000030783.5
SGCA rs397514451 pathogenic RCV000010045.3
SGCA rs757888349 likely pathogenic RCV000169146.1
SGCA rs758647756 pathogenic RCV000201165.1

Additional Information:

Description: (OMIM) LGMD2D is an autosomal recessive form of muscular dystrophy mainly affecting the proximal muscles and resulting in difficulty walking. Most individuals have onset in childhood; the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and ...
Clinical Description OMIM Romero et al. (1994) reported a French family with a progressive form of muscular dystrophy that was clinically milder than severe autosomal recessive muscular dystrophy (SCARMD; 253700). Four sibs had mild to overt symptoms, including proximal muscle weakness ...
Genotype-Phenotype Correlations OMIM Duggan et al. (1997) undertook to determine the frequency of sarcoglycan gene mutations and the relationship between the clinical features and genotype in 556 patients with myopathy but normal dystrophin genes. Antibody against alpha-sarcoglycan was used to stain ...
Molecular genetics OMIM In a French family with mild autosomal recessive limb-girdle muscular dystrophy reported by Romero et al. (1994), Roberds et al. (1994) identified missense mutations in the adhalin gene (see, e.g., 600119.0001-600119.0002). The family was nonconsanguineous and the affected ...
Population genetics OMIM Hayashi et al. (1995) performed an immunocytochemical survey of muscle biopsies from 243 Japanese muscular dystrophy patients over 2.5 years. They identified 5 unrelated Japanese patients (3 females and 2 males with no family history) as having adhalin ...