Autosomal dominant limb-girdle muscular dystrophy type 1G

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD1G
Number of Symptoms 18
OrphanetNr: 55596
OMIM Id: 609115
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000518) Cataract 454 / 7739
2
(HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
3
(HPO:0008116) Flexion limitation of toes 1 / 7739
4
(HPO:0006203) Decreased movement range in interphalangeal joints 1 / 7739
5
(HPO:0008956) Proximal lower limb amyotrophy 5 / 7739
6
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
7
(HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
8
(HPO:0008948) Proximal upper limb amyotrophy 3 / 7739
9
(HPO:0003805) Rimmed vacuoles 22 / 7739
10
(HPO:0003198) Myopathy 151 / 7739
11
(HPO:0006785) Limb-girdle muscular dystrophy 14 / 7739
12
(OMIM) Biopsy shows myopathic changes 2 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
14
(OMIM) Flexion limitation of fingers, progressive, permanent 1 / 7739
15
(OMIM) Hyporeflexia in affected muscles 1 / 7739
16
(OMIM) Flexion limitation of toes, progressive, permanent 1 / 7739
17
(HPO:0003581) Adult onset 117 / 7739
18
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Starling et al. (2004) reported a Brazilian family in which 12 members had a mild adult-onset form of autosomal dominant limb-girdle muscular dystrophy. Age at onset ranged from 30 to 47 years with proximal lower limb weakness in ...