Neurogenetic Conditions are caused by changes in geners or chromosomes, which could affect the brain, spinal cord, nerves, and muscles. There are a vast number of neurogenetic disorders that may present in different ways. They may cause problems from birth or only become evident in later childhood. They include malformations of the brain, neurodevelopmental disroders, and genetic syndromes, as well as problems such as seizures, loss of muscle tone, balance, and learning difficulties.
Some suspected or diagnosed neurogenetic disorders could include:
- Disorders of eye movements and cranial nerves
- Epilepsy
- Mitochondrial Disorders
- Brain malformations such as agenesis of the corpus callosum
- Rett Syndrome
- CDKL5
- Fragile X Syndrome
- Chromosomal disorders
- Tuberous Sclerosis Complex (TSC)
- Sturge-Weber Syndrome Clinic
These conditions are often rare and thus currently have no effective treatment.
Often rare conditions are chronic and life-threatening. Despite sophisticated diagnostic testing, on average it takes over four years to receive an accurae diagnosis of a rare disease.
Our specialist team of physiotherapists work holistically with the wider multidisciplinary team to support children and young people to move and function to the best of their ability.
We may provide ongoing advice alongside a hands-on approach that ensures the child is positioned well to carry out activities and exercises. This gives the children opportunities to become aware of a variety of movement patterns which they may not otherwise use.
For more information:
NHS
Parents Advice