Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n=6). [kclpure.kcl.ac.uk]

Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n = 6). [research-repository.uwa.edu.au]

Caveolin-3 was also shown to be present in DHPR-containing triadic membrane preparations from which both proteins co-immunoprecipitated. [hal.univ-grenoble-alpes.fr]

Here we present a series of eight patients from seven families presenting with exercise intolerance and rhabdomyolysis caused by mutations in CAV3 diagnosed by next generation sequencing (NGS) (n = 6)... [read.qxmd.com]

• Pain

  Patients presenting with muscle pain, exercise intolerance and rhabdomyolysis should be routinely tested for PIRCs as this may be an important clinical clue for caveolinopathies, even in the absence of other “typical” features. [kclpure.kcl.ac.uk]

  These contractions may take up to 30 seconds and can be painful. In addition, those affected may have hypertrophy of the calf muscles. This disease does not affect the proximal muscles such as the thighs and upper arms muscles. [ivami.com]

  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. [encyclopedia.pub]

• Inflammation

  Differently from adult's patients, inflammation changes in dysferlinopaties were uncommon. Lobuled fibers were characteristic changes in calpainopathies in children. [teses.usp.br]

  McNally EM, Ly CT, Rosenmann H et al. (2000) Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. Am J Med Genet 91:305–312 Article CAS PubMed Google Scholar 59. [link.springer.com]

• Swelling

  Acute mechanical stress induced by osmotic swelling or by uniaxial stretching results in a rapid disappearance of caveolae, in a reduced caveolin/Cavin1 interaction, and in an increase of free caveolins at the plasma membrane. [typeset.io]

• Respiratory Distress

  Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a specific and rare variant of infantile SMA caused by homozygous mutations in the IGHMBP2 gene. [jnnp.bmj.com]

• Myopathy

  Distal myopathy related CAV3 (CAV3-related distal myopathy) - Gen CAV3. [ivami.com]

  Description CAV3-related distal myopathy is one form of distal myopathy, a group of disorders characterized by weakness and loss of function affecting the muscles farthest from the center of the body (distal muscles), such as those of the hands and feet [medlineplus.gov]

  Caveolin-3 defects lead to four distinct skeletal muscle disease phenotypes: limb-girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia. [unboundmedicine.com]

  Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. [kclpure.kcl.ac.uk]

  Even in the era of next generation sequencing (NGS), late-onset vacuolar myopathies remain a diagnostic challenge. [read.qxmd.com]

• Confusion

  Causes and effect are often confused, even when directly studying patients’ cardiomyocytes, because of the maladaptive remodeling imposed by electro-mechanical alterations. [nanion.de]

Growing points: High CK serum levels in athletes following absolute rest and without any further predisposing factors should prompt a full diagnostic workup with special regards to signs of muscle weakness or other simple signs that, in both athletes [typeset.io]

Treatment is said to be supportive and based on the signs and symptoms present in each person.[10678][10677][10679] Rippling muscle disease can be caused by changes (mutations) in the CAV3 gene. [rarediseases.org]

While there may not be treatments per se, for a rare disease, there are often therapies that can help with some of the symptoms of a muscular disease. [fdna.health]

The decline in effectiveness of intervention effects underscores the need for permanent cueing devices and follow-up treatment. [typeset.io]

Richard I, Brenguier L, Dincer P et al. (1997) Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. Am J Hum Genet 60:1128–1138 CAS PubMed Google Scholar 95. [link.springer.com]

Fanin M, Duggan DJ, Mostacciuolo ML et al. (1997) Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations. J Med Genet 34:973–977 CAS PubMed Google Scholar 8. [link.springer.com]

The present study thus revealed a direct molecular interaction between caveolin-3 and the DHPR which is likely to underlie their functional link and whose loss might therefore be involved in pathophysiological mechanisms associated to muscle caveolinopathies [hal.univ-grenoble-alpes.fr]

Arrhythmias and cardiomyopathy diseases are difficult to prevent/cure because the molecular mechanisms behind their onset are in most cases not fully clarified. [nanion.de]

[…] that is dependent on their specialized lipid composition and biophysical properties. ...read moreread less TL;DR: It is probably safe to counsel athletes with suspected myopathy to continue to undertake physical activity at a lower intensity, so as to prevent [typeset.io]