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KIF1A Associated Neurological Disorder (KAND)

What is KIF1A associated-neurological disorder?

KIF1A associated-neurological disorder (KAND), also known as KIF1A-related disorder, is a group of conditions caused by mutations in the KIF1A gene. 

What are the symptoms of KIF1A associated-neurological disorder?

As there are multiple mutations of the KIF1A gene, the symptoms of this disorder can vary greatly between affected individuals. Known effects of this condition include:

  • Intellectual disability
  • Developmental delays
  • Hypotonia
  • Exaggerated reflexes
  • Spastic paraplegia
  • Optic nerve atrophy
  • Issues with balance and coordination
  • Peripheral neuropathy
  • Involuntary eye movements
  • Crossed eyes
  • Drooping eyelids
  • Facial diplegia
  • Tremors

Because this condition is very rare, there is still more that needs to be learned about these symptoms. 

What causes KIF1A associated-neurological disorder?

As the name suggests, mutations in the KIF1A gene cause this condition. It is responsible for a protein that is needed for many bodily processes. As KAND is an umbrella for multiple disorders, there are multiple ways in which a mutation can be inherited. It is passed down in both autosomal recessive and dominant patterns.

How is KIF1A associated-neurological disorder diagnosed?

Doctors will diagnose this condition through a clinical exam, an evaluation of patient and family history, an identification of characteristic symptoms, and testing. These tests include a blood test, neurologic exam, and genetic testing. 

What are the treatments for KIF1A associated-neurological disorder?

Because this disorder is so rare, there are no treatment guidelines for it. A team of specialists will work together to treat specific symptoms. 

Where can I find out more about KIF1A associated-neurological disorder?

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