What is CDG PIG-A?
CDG PIG-A is a very rare genetic disorder that belongs to the group of congenital glycosylation disorders (CDG).
- Cause: Mutations in the PIG-A gene, which is responsible for the formation of GPI anchors. These anchors are important for anchoring certain proteins to the cell surface.
- Typical characteristics: Developmental delays, neurological abnormalities, muscle weakness, sometimes seizure disorders, growth retardation and other systemic symptoms.
- Affected areas: Mobility, coordination, sometimes epilepsy, eating and swallowing problems.
Tools that are frequently used with CDG PIG-A:
Aids and support for everyday life
As CDG syndrome type PIG-A has a major impact on mobility and vital functions, comprehensive provision of aids is essential:
- Stability & trunk control: due to the severe hypotonia, individually adapted seat shells or therapy chairs with elaborate pelotte systems (cushions) and headrests are necessary to enable safe positioning.
- Safety in epilepsy: To protect the child during convulsions, epilepsy sensor mats for night-time monitoring and padded lying surfaces are essential in everyday life.
- Mobility aids:Rehab buggies or wheelchairs that provide good support for the head and trunk enable participation in social life.
- Nutritional aids: For swallowing and eating problems, specialized drinking aids or mobile feeding pumps (for tube feeding) support care and relieve the burden on parents.
- Positioning systems: Special positioning cushions help to keep the body stable at night and prevent joint misalignments and pressure sores.
Learn more
Here you will find further helpful information about CDG PIG-A:
www.orpha.net