Rippling muscle disease

Common Name(s)

Rippling muscle disease

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 ({2:Kubisch et al., 2005}). Genetic Heterogeneity of Rippling Muscle Disease Another locus for RMD, designated RMD1 ({600332}), maps to chromosome 1q41.
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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rippling muscle disease" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Recommended Apps

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Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

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Relief is when you and the right researcher find each other

Finding the right clinical trial for Rippling muscle disease can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rippling muscle disease" returned 4 free, full-text research articles on human participants. First 3 results:

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
 

Author(s): Giulia Ricci, Isabella Scionti, Greta Alì, Leda Volpi, Virna Zampa, Marina Fanin, Corrado Angelini, Luisa Politano, Rossella Tupler, Gabriele Siciliano

Journal: Neuromuscul. Disord.. 2012 Jun;22(6):534-40.

 

We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy. The patient displayed also bilateral winged scapula with limited abduction of upper arms and marked asymmetric atrophy of leg muscles ...

Last Updated: 31 Dec 1969

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Rippling is not always electrically silent in rippling muscle disease.
 

Author(s): Takakuni Maki, Riki Matsumoto, Nobuo Kohara, Takayuki Kondo, Insuk Son, Takahiro Mezaki, Ichizo Nishino, Akio Ikeda, Ryosuke Takahashi

Journal: Muscle Nerve. 2011 Apr;43(4):601-5.

 

Rippling muscle disease (RMD) is a myopathy with hyperirritability, the pathophysiology for which is uncertain.We report electromyographic findings in a 30-year-old man with RMD. Clinical features included muscle rippling and percussion-induced rapid muscle contractions. Both were ...

Last Updated: 31 Dec 1969

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

Author(s): P Y K Van den Bergh, J M Gérard, J A Elosegi, M U Manto, C Kubisch, B G H Schoser

Journal: J. Neurol. Neurosurg. Psychiatry. 2004 Sep;75(9):1349-51.

 

Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise induced myalgia, and cramp-like sensations. It is genetically heterogeneous and can be acquired, but most cases show autosomal dominant inheritance due to mutations in the caveolin-3 ...

Last Updated: 31 Dec 1969

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PubMed Article Results at NCBI: 4 article(s)

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rippling muscle disease" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time. Please click this link to visit the PubMed website for results on "Rippling muscle disease".

 
 
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Symptoms, Diagnosis, and Treatment

This information is provided by Genetics Home Reference.
https://ghr.nlm.nih.gov/condition/rippling-muscle-disease
https://ghr.nlm.nih.gov/gene/CAV3
https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy
https://ghr.nlm.nih.gov/condition/isolated-hyperckemia
https://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia
https://ghr.nlm.nih.gov/condition/cav3-related-distal-myopathy
https://ghr.nlm.nih.gov/condition/multiminicore-disease
https://ghr.nlm.nih.gov/gene/GYS1
https://ghr.nlm.nih.gov/condition/pompe-disease
https://ghr.nlm.nih.gov/gene/PYGM
https://ghr.nlm.nih.gov/condition/danon-disease
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii
https://ghr.nlm.nih.gov/condition/brody-myopathy
https://ghr.nlm.nih.gov/gene/PHKA1
https://ghr.nlm.nih.gov/condition/central-core-disease
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v
https://ghr.nlm.nih.gov/gene/KCNA1
https://ghr.nlm.nih.gov/gene/CLCN1
https://ghr.nlm.nih.gov/condition/sandhoff-disease
https://ghr.nlm.nih.gov/condition/nemaline-myopathy
Full Results at Genetics Home Reference: 1912 matches
This information is provided by GeneReviews.
http://www.ncbi.nlm.nih.gov/books/NBK1385
This information is provided by Genetic Testing Registry.
http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853698
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Rippling muscle disease" (open studies are recruiting volunteers) and 0 "Rippling muscle disease" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:
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Relief is when you and the right researcher find each other
Finding the right clinical trial for Rippling muscle disease can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Learn More