-
Overview
-
Transcript
Urea cycle disorder (UCD) is a genetic disease that affects the body's ability to remove ammonia, leading to toxic buildup. This video explains its impact, common symptoms, and management options to help control ammonia levels.
Watch: Myopathy (muscle damage) in the hands
In people with cystinosis, myopathy tends to affect the hands first, typically in the muscles that control the fingers, and worsen over time, leading to difficulty:
- Straightening the hands
- Bending the wrists
- Performing tasks like gripping objects
It is important to note that muscle damage can occur within the cells even before a person with cystinosis or their doctor notices a change in muscle strength or function.
Cystinosis Mechanism of Disease (MOD) Animation
Cystinosis is a rare genetic condition that leads to trouble with the cells’ recycling centres, called lysosomes. Cystinosin, a transporter that usually allows cystine to exit the cell, is not working properly. This causes cystine to build up, eventually forming crystals.
Cystine buildup can cause damage to muscle cells in the body. Muscle damage is also called myopathy.
Muscle damage usually begins in the hands, starting with the small muscles that help control the fingers, and may progress over time. It can make the fingers harder to control, and motions like grabbing, gripping, straightening the fingers, and bending the wrists more difficult.
Do you want to link to our other external sites and leave cystinosisunited.ca?
You are now leaving the cystinosisunited.ca website. Please note that the information you are about to view may not comply with Canadian regulatory requirements. Marketing authorizations and availability of products may differ between Canada and other countries.