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
- Exaggerated reflexes
- Spastic paraplegia
- Optic nerve atrophy
- Issues with balance and coordination
- Peripheral neuropathy
- Involuntary eye movements
- Crossed eyes
- Drooping eyelids
- Facial diplegia
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.