LGMDD4
MCID: MSC187
MIFTS: 20

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 (LGMDD4)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 58 76 6
Muscular Dystrophy, Limb-Girdle, Type 1i 58 76
Lgmdd4 58 76
Lgmd1i 58 76
Muscular Dystrophy, Limb-Girdle, Type 1i; Lgmd1i 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some patients may become wheelchair-bound
adult onset (average 37 years)
some mutation carriers may be asymptomatic
reported in families of northern european descent who share the same mutation


Classifications:



External Ids:

OMIM 58 618129
MeSH 45 D049288
MedGen 43 CN253839

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

UniProtKB/Swiss-Prot : 76 Muscular dystrophy, limb-girdle, autosomal dominant 4: A form of autosomal dominant limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDD4 is characterized by onset of proximal muscle weakness in young adulthood, gait difficulties, increased serum creatine kinase, myalgia, and back pain. Some patients may have upper limb involvement. Disease severity and expressivity are highly variable.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4, is also known as muscular dystrophy, limb-girdle, type 1i. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 is CAPN3 (Calpain 3). Affiliated tissues include skeletal muscle.

OMIM : 58 Autosomal dominant limb-girdle muscular dystrophy-4 is characterized by onset of proximal muscle weakness in young adulthood. Affected individuals often have gait difficulties; some may have upper limb involvement. Other features include variably increased serum creatine kinase, myalgia, and back pain. The severity and expressivity of the disorder is highly variable, even within families (summary by Vissing et al., 2016). For a discussion of genetic heterogeneity of autosomal dominant limb-girdle muscular dystrophy, see 603511. (618129)

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x Limb-Girdle Muscular Dystrophy Type 1a
Limb-Girdle Muscular Dystrophy Type 1b Limb-Girdle Muscular Dystrophy Type 1c

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
hyperlordosis
back pain

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging

Neurologic Central Nervous System:
gait difficulties

Muscle Soft Tissue:
abdominal wall muscle weakness
myalgia
muscle weakness, proximal
type 1 fiber predominance
fiber splitting
more
Laboratory Abnormalities:
increased serum creatine kinase

Clinical features from OMIM:

618129

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

42
Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CAPN3 NM_000070.2(CAPN3): c.643_663del(p.Ser215_Gly221del) deletion Pathogenic/Likely pathogenic rs863224965 GRCh37 Chromosome 15, 42681136: 42681156
2 CAPN3 NM_000070.2(CAPN3): c.643_663del(p.Ser215_Gly221del) deletion Pathogenic/Likely pathogenic rs863224965 GRCh38 Chromosome 15, 42388938: 42388958

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....