RIPPLING MUSCLE DISEASE

General Information (adopted from Orphanet):

Synonyms, Signs: RMD RIPPLING MUSCLE DISEASE 2, INCLUDED
RMD2, INCLUDED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 606072
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
2
(HPO:0003710) Exercise-induced muscle cramps 11 / 7739
3
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
4
(HPO:0003738) Exercise-induced myalgia 19 / 7739
5
(HPO:0003760) Percussion-induced rapid rolling muscle contractions 3 / 7739
6
(HPO:0008967) Exercise-induced muscle stiffness 6 / 7739
7
(HPO:0003559) Muscle hyperirritability 3 / 7739
8
(HPO:0003719) Muscle mounding 4 / 7739
9
(HPO:0003457) EMG abnormality 78 / 7739
10
(OMIM) Decreased caveolin-3 expression on muscle biopsy 1 / 7739
11
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
(OMIM) Muscle activity is electrically silent on EMG 2 / 7739
13
(OMIM) [DEL]Muscle cramps with exercise 4 / 7739
14
(HPO:0003581) Adult onset Common [HPO] 117 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary rippling muscle disease is an autosomal dominant disorder characterized by mechanically triggered contractions of skeletal muscle. In rippling muscle disease, mechanical stimulation leads to electrically silent muscle contractions that spread to neighboring fibers that cause visible ripples ...
Clinical Description OMIM Torbergsen (1975) described myotonia with muscular hypertrophy and hyperirritability in 3 generations (with male-to-male transmission) and maintained that the disorder was distinct from Thomsen myotonia congenita (160800). In the most severely affected persons, unusual rolling muscle contractions were ...
Molecular genetics OMIM In the families with rippling muscle disease described by Ricker et al. (1989) and Vorgerd et al. (1999), Betz et al. (2001) identified 4 mutations in the CAV3 gene (see, e.g., 601253.0001 and 601253.0005). They found that the ...