Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic.
Ver. Summary Created by Modification Content Size Created at Operation
1 + 469 word(s) 469 2020-12-15 07:18:14

Video Upload Options

Do you have a full video?


Are you sure to Delete?
If you have any further questions, please contact Encyclopedia Editorial Office.
Yang, C. CAV3-Related Distal Myopathy. Encyclopedia. Available online: (accessed on 04 December 2023).
Yang C. CAV3-Related Distal Myopathy. Encyclopedia. Available at: Accessed December 04, 2023.
Yang, Catherine. "CAV3-Related Distal Myopathy" Encyclopedia, (accessed December 04, 2023).
Yang, C.(2020, December 24). CAV3-Related Distal Myopathy. In Encyclopedia.
Yang, Catherine. "CAV3-Related Distal Myopathy." Encyclopedia. Web. 24 December, 2020.
CAV3-Related Distal Myopathy

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.

genetic conditions

1. Introduction

People with CAV3-related distal myopathy experience wasting (atrophy) and weakness of the small muscles in the hands and feet that generally become noticeable in adulthood. A bump or other sudden impact on the muscles, especially those in the forearms, may cause them to exhibit repetitive tensing (percussion-induced rapid contraction). The rapid contractions can continue for up to 30 seconds and may be painful. Overgrowth (hypertrophy) of the calf muscles can also occur in CAV3-related distal myopathy. The muscles closer to the center of the body (proximal muscles) such as the thighs and upper arms are normal in this condition.

2. Frequency

The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature.

3. Causes

CAV3-related distal myopathy is part of a group of conditions called caveolinopathies, which are muscle disorders caused by mutations in the CAV3 gene. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found in the membrane surrounding muscle cells. This protein is the main component of caveolae, which are small pouches in the muscle cell membrane. Within the caveolae, the caveolin-3 protein acts as a scaffold to organize other molecules that are important for cell signaling and maintenance of the cell structure.

CAV3 gene mutations result in a shortage of caveolin-3 protein in the muscle cell membrane and a reduction in the number of caveolae. Researchers suggest that a shortage of caveolae impairs the structural integrity of muscle cells, interferes with cell signaling, and causes the self-destruction of cells (apoptosis). The resulting degeneration of muscle tissue leads to the signs and symptoms of CAV3-related distal myopathy.

In addition to CAV3-related distal myopathy, CAV3 gene mutations can cause other caveolinopathies including limb-girdle muscular dystrophy, rippling muscle disease, isolated hyperCKemia, and a heart disorder called hypertrophic cardiomyopathy. Several CAV3 gene mutations have been found to cause different caveolinopathies in different individuals. It is unclear why a single CAV3 gene mutation may cause different patterns of signs and symptoms, even within the same family.

4. Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with CAV3-related distal myopathy or another caveolinopathy. Rare cases result from new mutations in the gene and occur in people with no history of caveolinopathies in their family.

5. Other Names for This Condition

  • distal myopathy, Tateyama type
  • MPDT


  1. Aboumousa A, Hoogendijk J, Charlton R, Barresi R, Herrmann R, Voit T, HudsonJ, Roberts M, Hilton-Jones D, Eagle M, Bushby K, Straub V. Caveolinopathy--newmutations and additional symptoms. Neuromuscul Disord. 2008 Jul;18(7):572-8. doi:10.1016/j.nmd.2008.05.003.
  2. Gazzerro E, Bonetto A, Minetti C. Caveolinopathies: translational implicationsof caveolin-3 in skeletal and cardiac muscle disorders. Handb Clin Neurol.2011;101:135-42. doi: 10.1016/B978-0-08-045031-5.00010-4. Review.
  3. Gazzerro E, Sotgia F, Bruno C, Lisanti MP, Minetti C. Caveolinopathies: fromthe biology of caveolin-3 to human diseases. Eur J Hum Genet. 2010Feb;18(2):137-45. doi: 10.1038/ Eur J Hum Genet. 2009 Dec;17(12):1692.
  4. Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y.Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.Neurology. 2002 Jan 22;58(2):323-5. Erratum in: Neurology 2002 Mar 12;58(5):839. Itoyoma Y [corrected to Itoyama Y].
  5. Woodman SE, Sotgia F, Galbiati F, Minetti C, Lisanti MP. Caveolinopathies:mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases.Neurology. 2004 Feb 24;62(4):538-43. Review.
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to :
View Times: 238
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020