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Limb-Girdle Muscular Dystrophy (LGMD)
Alias:
Lgmd
|
Muscular Dystrophies, Limb-Girdle
|
Leyden-Mbius Muscular Dystrophy
|
Limb Girdle Muscular Dystrophy
|
Erb's Muscular Dystrophy
|
Other Specified Limb-Girdle Muscular Dystrophy
|
Limb-Girdle Muscular Dystrophy, Unspecified
|
Leyden-Mobius Muscular Dystrophy
|
Myopathic Limb-Girdle Syndrome
|
Muscular Dystrophy Limb-Girdle
|
Limb Girdle Muscle Dystrophy
|
Limb-Girdle Syndrome
|
Limb-Girdle Myopathy
|
Limb Girdle
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Limb-girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies characterized by progressive muscle wasting affecting the hip and shoulder muscles. It is genetically heterogeneous, with at least 20 different types. Most forms are inherited in an autosomal recessive manner, while some are autosomal dominant. Symptoms include weakness in proximal muscles, leading to difficulty walking, running, and eventually requiring wheelchair assistance. Postural changes, joint stiffness, and heart and respiratory issues may also occur. Intelligence is typically unaffected, but developmental delays have been reported in rare cases. LGMD has no known cure or treatment.
Related ID:
MALACARDS: LMB006
|
MESH: D049288
|
ICD11: 887807212
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AD
Autosomal dominant
AR
Autosomal recessive
All ages
1-9/1000000
Point prevalence:
1-9/1000000 (Netherlands)
1-9/100000 (United Kingdom, Japan, Worldwide, Spain, Ireland)
Lifetime Prevalence:
1-9/100000 (Egypt)
1493
9985
31
LMB006
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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