Advanced searches left 3/3
Search only database of 8 mil and more summaries

Congenital fiber type disproportion

Summarized by PlexPage
Last Updated: 02 July 2021

* If you want to update the article please login/register

General | Latest Info

Congenital Fiber-Type Disproportion is a condition that primarily affect skeletal muscles, which are muscles used for movement. People with this condition typically experience muscle weakness, particularly in muscles of shoulders, upper arms, hips, and thighs. Weakness can also affect muscles of the face and muscles that control eye movement, sometimes causing droopy eyelids. Individuals with congenital Fiber-Type Disproportion generally have a long face, high arch on roof of mouth, and crowded teeth. Individuals with congenital Fiber-Type Disproportion may have joint deformities and abnormally curve lower back or spine that curve to the side. Approximately 30 percent of people with this disorder experience mild to severe breathing problems related to weakness of muscles needed for breathing. Some people who experience these breathing problems require use of machines to help regulate their breathing at night, and occasionally during day as well. About 30 percent of affected individuals have difficulty swallowing due to muscle weakness in the throat. Rarely, people with this condition have weakened and enlarge heart muscle. Severity of congenital Fiber-Type Disproportion varies widely. It is estimated that up to 25 percent of affected individuals experience severe muscle weakness at birth and die in infancy or childhood. Others have only mild muscle weakness that become apparent in adulthood. Most often, signs and symptoms of this condition appear by age 1. The first signs of this condition are usually decreasing muscle tone and muscle weakness. In most cases, muscle weakness does not worsen over time, and in some instances it may improve. Although motor skills such as standing and walking may be delay, many affect children who eventually learn to walk. These individuals often have less stamina than their peers, but they remain active. Rarely, people with this condition have a progressive decline in muscle strength over time. These individuals may lose the ability to walk and require wheelchair assistance. Mutations in multiple genes can cause congenital Fiber-Type Disproportion. Mutations in TPM3, RYR1 and ACTA1 genes cause 35 to 50 percent of cases, while mutations in other genes, some know and some unidentified, are responsible for remaining cases. Genes that cause congenital Fiber-Type Disproportion provide instructions for making proteins that are involved in tensing of muscle fibers. Changes in these proteins lead to impaired muscle contraction, resulting in muscle weakness. Skeletal Muscle is made up of two types of muscle fibers: Type I and Type II. Normally, Type I and Type II fibers are the same size. In people with congenital Fiber-Type Disproportion, Type I skeletal muscle fibers are significantly smaller than Type II skeletal muscle fibers. It is unclear whether small Type I skeletal muscle fibers lead to muscle weakness or are caused by muscle weakness in people with congenital Fiber-Type Disproportion. When this condition is caused by mutations in ACTA1 gene, it usually occurs in an autosomal dominant pattern.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

Sources

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions.

* Please keep in mind that all text is machine-generated, we do not bear any responsibility, and you should always get advice from professionals before taking any actions

logo

Plex.page is an Online Knowledge, where all the summaries are written by a machine. We aim to collect all the knowledge the World Wide Web has to offer.

Partners:
Nvidia inception logo

© All rights reserved
2021 made by Algoritmi Vision Inc.

If you believe that any of the summaries on our website lead to misinformation, don't hesitate to contact us. We will immediately review it and remove the summaries if necessary.

If your domain is listed as one of the sources on any summary, you can consider participating in the "Online Knowledge" program, if you want to proceed, please follow these instructions to apply.
However, if you still want us to remove all links leading to your domain from Plex.page and never use your website as a source, please follow these instructions.