What is PURA syndrome?
PURA syndrome is a rare genetic disorder caused by mutations in the PURA gene on chromosome 5. This gene codes for a protein that is important for the regulation of gene expression and the stability of DNA. Mutations in the PURA gene lead to a malfunction of this protein and thus impair various biological processes.
PURA syndrome is associated with a variety of symptoms that usually manifest in early childhood. The most common features include developmental delays, intellectual disability, speech disorders and motor problems such as coordination disorders or muscle hypotonia (reduced muscle tone). Behavioral abnormalities such as autistic traits and epileptic seizures are also common.
The symptoms and their severity vary greatly, but many affected children never reach the normal developmental milestones. Prognosis depends on the severity of the mutations and early intervention. There is currently no cure for PURA syndrome, but targeted therapies such as occupational therapy, physiotherapy and speech therapy can support affected children to maximize their abilities and improve their quality of life.
Aids that are frequently used for PURA syndrome:
Aids and support for everyday life
As there is currently no cure for PURA syndrome, the focus is on promoting quality of life through targeted therapies and aids:
- Mobility & straightening: due to the pronounced muscle weakness, individually adapted rehab buggies, wheelchairs or standing trainers are essential. They not only promote mobility, but also support bone density and organ function.
- Positioning: A stable therapy chair with head and side supports enables the child to sit upright when eating, playing and learning, which is particularly important in the case of hypotonia.
- Augmentative and Alternative Communication (AAC): As spoken language is often severely limited, signs, picture card systems or electronic speech computers(talkers) help to break down barriers.
- Safety with epilepsy: If seizures occur, safety helmets for the day and epilepsy sensor mats for the night offer important safety for the child and relief for the parents.
- Care and bathing aids: Bath lifts or shower chairs make daily care easier and ensure safe handling with low muscle tension.
Learn more
You can find more helpful information about PURA syndrome here:
pura-deutschland.de