Luke Rosen, founder of 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.

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