MCID: MSC189
MIFTS: 16

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 57 6
Lgmdr23 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
slowly progressive
variable age at onset (range childhood to adult)
patients remain ambulatory
onset after walking is achieved


Classifications:



External Ids:

OMIM 57 618138

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

OMIM : 57 Autosomal recessive limb-girdle muscular dystrophy-23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Age at onset generally ranges from childhood to mid-adulthood. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features, with partial LAMA2 deficiency on muscle biopsy. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. Patients remain ambulatory well into adulthood (summary by Gavassini et al., 2011 and Chan et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600). (618138)

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23, is also known as lgmdr23. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 is LAMA2 (Laminin Subunit Alpha 2). Affiliated tissues include brain.

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Symptoms via clinical synopsis from OMIM:

57
Muscle Soft Tissue:
muscle cramps
difficulty climbing stairs
calf hypertrophy
gait difficulties
gower sign
more
Neurologic Central Nervous System:
delayed motor development
seizures (in some patients)
executive deficits (in some patients)
white matter abnormalities seen on brain imaging

Head And Neck Neck:
neck weakness

Neurologic Peripheral Nervous System:
areflexia
sensorimotor demyelinating neuropathy (in some patients)

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

618138

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

41
Brain

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA2 NM_000426.3(LAMA2): c.4487C> T (p.Ala1496Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147077184 GRCh37 Chromosome 6, 129670493: 129670493
2 LAMA2 NM_000426.3(LAMA2): c.4487C> T (p.Ala1496Val) single nucleotide variant Conflicting interpretations of pathogenicity rs147077184 GRCh38 Chromosome 6, 129349348: 129349348
3 LAMA2 NM_000426.3(LAMA2): c.728T> C (p.Leu243Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 129143989: 129143989
4 LAMA2 NM_000426.3(LAMA2): c.728T> C (p.Leu243Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 129465134: 129465134
5 LAMA2 NM_000426.3(LAMA2): c.4860+2delinsGGCC indel Pathogenic GRCh37 Chromosome 6, 129687508: 129687508
6 LAMA2 NM_000426.3(LAMA2): c.4860+2delinsGGCC indel Pathogenic GRCh38 Chromosome 6, 129366363: 129366363
7 LAMA2 NM_000426.3(LAMA2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 129381036: 129381036
8 LAMA2 NM_000426.3(LAMA2): c.391C> T (p.Gln131Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 129059891: 129059891

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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