Muscular dystrophy, limb-girdle, autosomal dominant

MedGen UID:: 1826162
•Concept ID:: C5675009
•: Disease or Syndrome

Synonyms:	Autosomal dominant form of limb-girdle muscular dystrophy; Limb-Girdle Muscular Dystrophies, Autosomal Dominant

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	MYLK2, TNPO3, DNAJB6, HNRNPDL, MYOT, MYH7, MYH6, LMNA, DES, CAV3

Monarch Initiative:	MONDO:0015151
OMIM® Phenotypic series:	PS603511
Orphanet:	ORPHA102014

Definition

Autosomal dominant form of limb-girdle muscular dystrophy. [from MONDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb-girdle muscular dystrophy
- CROGVAutosomal recessive limb-girdle muscular dystrophy
- CROGVMuscular dystrophy, limb-girdle, autosomal dominant

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the musculature of the limbs
    - Limb-girdle muscle atrophy
      - Limb-girdle muscular dystrophy
        Muscular dystrophy, limb-girdle, autosomal dominant
        Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
        Autosomal dominant limb-girdle muscular dystrophy type 1F
        Autosomal dominant limb-girdle muscular dystrophy type 1G
        Autosomal dominant limb-girdle muscular dystrophy type 1H
        Calpain-3-related limb-girdle muscular dystrophy D4
        Caveolinopathy
        Distal myopathy, Tateyama type
        Elevated circulating creatine kinase concentration
        Elevated creatine kinase after exercise
        Extremely elevated creatine kinase
        Highly elevated creatine kinase
        Mildly elevated creatine kinase
        Hypertrophic cardiomyopathy 1
        Inherited rippling muscle disease
        Rippling muscle disease 1
        Rippling muscle disease 2
        Isolated asymptomatic elevation of creatine phosphokinase
        Desmin-related myofibrillar myopathy
        Emery-Dreifuss muscular dystrophy 2, autosomal dominant
        Myofibrillar myopathy 3

Professional guidelines

PubMed

Provisional practice recommendation for the management of myopathy in VCP-associated multisystem proteinopathy.

Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz-Manera J, Korb M, Wicklund MP, Milone M, Freimer M, Kushlaf H, Villar-Quiles RN, Stojkovic T, Needham M, Palmio J, Lloyd TE, Keung B, Mozaffar T, Weihl CC, Kimonis V
Ann Clin Transl Neurol 2023 May;10(5):686-695. Epub 2023 Apr 7 doi: 10.1002/acn3.51760. PMID: 37026610 Free PMC Article

The Limb-Girdle Muscular Dystrophies: Is Treatment on the Horizon?

Chu ML, Moran E
Neurotherapeutics 2018 Oct;15(4):849-862. doi: 10.1007/s13311-018-0648-x. PMID: 30019308 Free PMC Article

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Muscular dystrophy, limb-girdle, autosomal dominant

Definition

Term Hierarchy

Professional guidelines

PubMed

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