Luke Rosen, father of a daughter with KIF1A associated neurological disorder (KAND), and co-founder of KIF1A.org talks about the signs and symptoms of KAND and how it is the “perfect storm’ of systems that has led him and other parents to start a advocacy group to find a treatment for this degenerative condition.
KAND is due to a mutation in the KIF1A gene. How defects in that gene lead to the disease systems and neurodegeneration is poorly understood but some of the more common symptoms are listed below but it should be stressed that no two children with KAND will have the exact same symptoms. Common symptoms are:
- Spastic paraplegia
- Intellectual disability
- Optic nerve atrophy
- Cerebellar atrophy
- Peripheral neuropathy
Two of the more common symptoms of KAND are spasticity and hypotonia. As such, these children are often misdiagnosed as having cerebral palsy. A confirmed diagnosis of KAND can only be achieved via genetic testing.
For more information, visit www.kif1a.org/