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Overview
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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 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.
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