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Rippling muscle disease 2(RMD2)

MedGen UID:
371357
Concept ID:
C1832560
Disease or Syndrome
Synonyms: CAV3-Related Rippling Muscle Disease; Limb-girdle muscular dystrophy, type 1C; RMD2
 
Gene (location): CAV3 (3p25.3)
 
Monarch Initiative: MONDO:0019947
OMIM®: 606072

Definition

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 to move over the muscle. RMD is usually inherited as an autosomal dominant trait, but autosomal recessive inheritance has also been reported (Kubisch et al., 2005). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 (600332), maps to chromosome 1q41. [from OMIM]

Additional description

From MedlinePlus Genetics
Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stretching the muscle causes visible ripples to spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact on the muscle causes it to bunch up (percussion-induced muscle mounding) or exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful.

People with rippling muscle disease may have overgrowth (hypertrophy) of some muscles, especially in the calf. Some affected individuals have an abnormal pattern of walking (gait), such as walking on tiptoe. They may experience fatigue, cramps, or muscle stiffness, especially after exercise or in cold temperatures.

The age of onset of rippling muscle disease varies widely, but it often begins in late childhood or adolescence. Rippling muscles may also occur as a feature of other muscle disorders such as limb-girdle muscular dystrophy.  https://medlineplus.gov/genetics/condition/rippling-muscle-disease

Clinical features

From HPO
Exercise-induced myalgia
MedGen UID:
340638
Concept ID:
C1850830
Sign or Symptom
The occurrence of an unusually high amount of muscle pain following exercise.
Proximal muscle weakness
MedGen UID:
113169
Concept ID:
C0221629
Finding
A lack of strength of the proximal muscles.
Gowers sign
MedGen UID:
65865
Concept ID:
C0234182
Finding
A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.
EMG abnormality
MedGen UID:
99199
Concept ID:
C0476403
Finding
Abnormal results of investigations using electromyography (EMG).
Calf muscle hypertrophy
MedGen UID:
335868
Concept ID:
C1843057
Finding
Muscle hypertrophy affecting the calf muscles.
Muscle hyperirritability
MedGen UID:
340036
Concept ID:
C1853701
Finding
Muscle mounding
MedGen UID:
340037
Concept ID:
C1853702
Finding
Percussion-induced, local prolonged contractions (mounding) in muscle persisting for several seconds.
Exercise-induced muscle stiffness
MedGen UID:
343388
Concept ID:
C1855579
Finding
A type of muscle stiffness that occurs following physical exertion.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Percussion-induced rapid rolling muscle contractions
MedGen UID:
902498
Concept ID:
C4280804
Finding
Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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