Cystinosis signs and symptoms
Cystinosis damage may appear at different times in different people. The amount of damage cystinosis does to the body and the rate at which it occurs may depend on how well a person manages the disease. Genetic and environmental factors may also play a role.
Kidney damage
Kidney damage is often the first sign of cystinosis but, over time, cystinosis may affect many parts of the body.
Click on the tabs below to see common cystinosis signs and symptoms
(Note: Signs and symptoms may vary from patient to patient)
Muscle damage
Myopathy, or muscle damage, can occur when cystine crystals build up within the cells in the body. Keeping cystine levels low is the main way to help limit or possibly delay the effects of myopathy on the muscles.
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.
Read the full video transcriptCystinosis 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.
Watch: Myopathy (muscle damage) in the throat
If allowed to progress, cystine crystal buildup can affect the muscles in the throat used for speaking, swallowing, and breathing. A person with myopathy may experience:
- Difficulty or pain with swallowing
- Choking
- Food or pills sticking in the throat
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 in cystinosis can also lead to difficulty swallowing, called dysphagia. Swallowing is a complex process that moves food through the mouth and throat while protecting the airway. If the throat muscles are damaged, swallowing may be slower and less coordinated. Food may also get caught in the airway, which can block the airway, or cause food or liquid to enter the lungs. When food starts to enter the airway, there is usually a reflex to cough, but this is not always the case, especially in people with severe dysphagia.
Talk to your doctor
Keeping cystine levels low is the primary way to slow the effects of cystinosis. That’s why it’s important to speak with your healthcare team and your doctor about ways to help manage your cystinosis.
