Wendy Chung, MD, PhD, Clinical Geneticist at Columbia University Medical School, talks about KIF1a, a rare progressive neurological disorder due to a mutation in the KIF1A gene.
KIF1a, also referred to as KIF1A associated neurological disorder (KAND), is not well understood but as Dr. Chung explains, current efforts are underway by leading clinical researchers, patient groups (e.g., www.kif1a.org) and industry to better understand the condition and develop a treatment.
Common symptoms of KAND may include spasticity, ataxia, peripheral neuropathy, intellectual disability, hypotonia, autism, and other symptoms that are often confused with cerebral palsy. A confirmed diagnosis of KAND can only be achieved via genetic testing.
To learn more about KAND and other neurological disorders, visit https://checkrare.com/diseases/neurology-nervous-system-diseases/