PhenomeGene — Human Disease Gene Website SeriesEXOSC3

Management

There is no specific cure right now, so treatment focuses on managing symptoms and providing support. Regular check ups are important to help the person function as well as possible and to catch any problems early.

Common Concerns and Support Strategies
Muscle and Movement (Musculoskeletal)
●    Physical and occupational therapy (PT/OT) can help improve movement, strength, balance, and coordination.
●    Adaptive equipment (like braces or walkers) may support mobility and daily tasks.

Development and Learning (Neurodevelopmental)
●    Early intervention programs can help with skills like attention, behavior, and learning.
●    An individualized learning plan should be created to support the child’s unique needs.

Speech and Communication
●    Speech therapy can help improve talking, understanding language, or using alternative ways to communicate.
●    Occupational therapy may also help with feeding or mouth movement issues.

Breathing (Respiratory)
●    A lung specialist (pulmonologist) may help manage breathing problems and treat lung infections.
●    Support might include breathing treatments or monitoring.

Feeding and Swallowing (Dysphagia)
●    Changing the texture of food or drinks can make swallowing safer and prevent choking or aspiration.
●    In some cases, feeding tubes (like a nasogastric or gastrostomy tube) may be used if eating by mouth isn’t safe or effective.

Seizures (Epilepsy)
●    A neurologist can help manage seizures with medications or other treatments.
●    Regular monitoring and an emergency plan are often needed.