TRAPPC11-related limb-girdle muscular dystrophy R18

TRAPPC11-related limb-girdle muscular dystrophy R18 (LGMD R18) is a rare inherited muscle disease caused by changes (mutations) in the TRAPPC11 gene. This gene provides instructions for making a protein involved in transporting materials within cells, particularly in a system called the Golgi apparatus. When this protein does not work properly, muscles throughout the body are affected, especially those around the hips and shoulders (the limb-girdle area). This is why the disease is classified as a limb-girdle muscular dystrophy. People with LGMD R18 typically develop progressive muscle weakness that begins in childhood. The weakness usually starts in the legs and hips, making it harder to walk, run, climb stairs, or get up from the floor. Over time, the arms and shoulders may also become weak. Some individuals may also experience intellectual disability, movement problems (such as difficulty with coordination), liver involvement, eye abnormalities, or seizures, though the severity and combination of symptoms can vary widely between patients. There is currently no cure for LGMD R18. Treatment focuses on managing symptoms and maintaining quality of life. This includes physical therapy to preserve muscle strength and flexibility, occupational therapy to help with daily tasks, and regular monitoring by a team of specialists. Assistive devices such as braces or wheelchairs may become necessary as the disease progresses. Research into potential therapies is ongoing, but disease-modifying treatments are not yet available.

Bring these to your next appointment

• Q1.What is the expected progression of my child's muscle weakness, and what milestones should we watch for?,How often should we have heart, lung, and liver function checked?,What physical therapy program is best to maintain strength and mobility?,Are there any clinical trials or research studies we could participate in?,Should other family members be tested for carrier status?,What assistive devices or home modifications should we consider now and in the future?,How should we manage seizures or other neurological symptoms if they develop?

Common questions about TRAPPC11-related limb-girdle muscular dystrophy R18