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Inherited rippling muscle disease

MedGen UID:: 979140
•Concept ID:: CN296487
•: Disease or Syndrome

Synonyms:	inherited rippling muscle disease; Rippling muscle disease
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Related gene: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	CAV3

Monarch Initiative:	MONDO:0020704
Orphanet:	ORPHA97238

Definition

Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVRippling muscle disease
- CROGVAcquired rippling muscle disease
  - CROGVRippling muscle disease with myasthenia gravis
- CROGVInherited rippling muscle disease
  - CROGVRippling muscle disease 1
  - CROGVRippling muscle disease 2

Abnormality of limbs
- Abnormality of the musculature of the limbs
  - Limb-girdle muscle atrophy
    - Limb-girdle muscular dystrophy
      - Muscular dystrophy, limb-girdle, autosomal dominant
        Caveolinopathy
        Inherited rippling muscle disease
        Rippling muscle disease 1
        Rippling muscle disease 2

Recent clinical studies

Etiology

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T
Eur J Neurol 2023 Aug;30(8):2506-2517. Epub 2023 May 25 doi: 10.1111/ene.15832. PMID: 37166430

See all (1)

Diagnosis

Caveolinopathies in Greece.

Papadopoulos C, Papadimas GK, Kekou K, Spengos K, Svigou M, Kitsiou-Tzeli S, Manta P
Neurologist 2015 Jul;20(1):8-12. doi: 10.1097/NRL.0000000000000036. PMID: 26185955

Thought ripples on muscle waves: recognition of rippling muscle disease.

Voermans NC, van Alfen N, Drost G, Ginjaar HB, Willemsen MA
Neuropediatrics 2008 Apr;39(2):116-8. doi: 10.1055/s-2008-1081466. PMID: 18671188

Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.

So YT, Zu L, Barraza C, Figueroa KP, Pulst SM
Muscle Nerve 2001 Mar;24(3):340-4. doi: 10.1002/1097-4598(200103)24:3<340::aid-mus1003>3.0.co;2-x. PMID: 11353417

Phenotypic variability in rippling muscle disease.

Vorgerd M, Bolz H, Patzold T, Kubisch C, Malin JP, Mortier W
Neurology 1999 Apr 22;52(7):1453-9. doi: 10.1212/wnl.52.7.1453. PMID: 10227634

Rippling muscle disease.

Ricker K, Moxley RT, Rohkamm R
Arch Neurol 1989 Apr;46(4):405-8. doi: 10.1001/archneur.1989.00520400065020. PMID: 2705900

See all (8)

Therapy

A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.

Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim BJ, Kim SJ
J Neurol Sci 2007 Sep 15;260(1-2):275-8. Epub 2007 May 23 doi: 10.1016/j.jns.2007.04.023. PMID: 17524427

See all (1)

Prognosis

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG
J Neurol Neurosurg Psychiatry 2004 Sep;75(9):1349-51. doi: 10.1136/jnnp.2003.028217. PMID: 15314133 Free PMC Article

See all (2)

Clinical prediction guides

Phenotypic variability associated with Arg26Gln mutation in caveolin3.

Fee DB, So YT, Barraza C, Figueroa KP, Pulst SM
Muscle Nerve 2004 Sep;30(3):375-8. doi: 10.1002/mus.20092. PMID: 15318349

Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.

Van den Bergh PY, Gérard JM, Elosegi JA, Manto MU, Kubisch C, Schoser BG
J Neurol Neurosurg Psychiatry 2004 Sep;75(9):1349-51. doi: 10.1136/jnnp.2003.028217. PMID: 15314133 Free PMC Article

Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.

So YT, Zu L, Barraza C, Figueroa KP, Pulst SM
Muscle Nerve 2001 Mar;24(3):340-4. doi: 10.1002/1097-4598(200103)24:3<340::aid-mus1003>3.0.co;2-x. PMID: 11353417

A rippling muscle disease gene is localized to 1q41: evidence for multiple genes.

Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP
Neurology 1994 Oct;44(10):1915-20. doi: 10.1212/wnl.44.10.1915. PMID: 7936247

See all (4)

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Inherited rippling muscle disease

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

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