Certain mutations in the KIF1A gene cause KIF1A Associated Neurological Disorder (KAND), a neurodegenerative disorder with a progressive course. The condition can affect both the brain and body, such as the eyes, muscles and nerves. There is a wide range of symptoms and severity that begin to appear at birth or in early childhood.
Difficult to Diagnose
Though they can be inherited, KIF1A gene mutations often occur spontaneously and are non-inherited genetic changes (sporadic de novo mutations), making the disorder difficult to diagnose without extensive genetic testing. KAND is a rare disease, and today there are approximately 200 people throughout the world with documented KAND diagnoses. However, we believe the actual number of people affected to be in the thousands.
While KAND is a degenerative disorder, what that means can vary dramatically from person to person. It does not affect any two people the same way.
While there’s no cure or treatment for KAND (yet), you can treat or manage certain symptoms related to the disorder. Examples of symptomatic medicines include anti-epileptic drugs for seizures and botox for spasticity.
We recommend seeing the following doctors for care recommendations based on the KAND symptoms you or a loved one is experiencing.
- Spasticity and neurological abnormalities: Consult a neurologist for management of spasticity or other neurological symptoms
- Epilepsy: Request an EEG (a measurement of the brain’s electrical activity) to address uncontrolled seizures
- Impaired vision: Consult an ophthalmologist and/or neuro-ophthalmologist to monitor vision changes
- Developmental delays: For children, follow up with a pediatrician to monitor growth and development
- Issues with coordination, muscle tone and speech: Physical, occupational and speech therapies are needed
For clinical care and monitoring of children with KAND, please visit Chung Lab at Columbia University Medical Center. To date, they have the most extensive knowledge of KAND and caring for those affected by it.
What We Don’t Know
Until recently, very little was known about KAND, including what causes the mutations and why they are responsible for breakdown of the KIF1A protein. We are still learning about KAND and research is critical to discover treatment before time runs out.
The constellation of symptoms, severity and progression of the disorder are very dependant on the individual. If you or a loved one has been diagnosed with KAND, consult a physician immediately.
Coping With a Diagnosis?
To understand KIF1A Associated Neurological Disorder and find treatment, we need to hear from everyone who has been diagnosed with KAND. Please reach out to Lia Boyle at firstname.lastname@example.org and enroll in our research study. The process is easy and can be accomplished in one phone call.