Luke Rosen, founder of KIF1A.org talks about the origins if this rare disease patient organization to help collect data on children with KIF1A associated neurological disorder (KAND).

KAND is due to a mutation in the KIF1A gene. Defects in that gene lead to a variety of neurological symptoms that may include:

  • Spastic paraplegia
  • Hypotonia
  • Ataxia
  • Intellectual disability
  • Epilepsy
  • Optic nerve atrophy
  • Cerebellar atrophy
  • Peripheral neuropathy
  • Autism

While symptoms vary greatly among the KAND population, two of the more common symptoms 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/

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