Dynein heavy chain binds microtubules and hydrolyzes ATP at its C-terminal head.

In recent larger cohort studies, the average age of patients was only 12 years old, likely due to symptoms overlap with other disorders like cerebral palsy and idiopathic autism and intellectual disability.

Prior to genetic testing, clinical diagnoses for these symptoms range from Charcot-Marie-Tooth disease[17] as well as spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1).

[19] DYNC1H1 gene variants have been increasingly correlated with Amyotrophic lateral sclerosis,[20][21] malformations of cortical development, and seizure disorders.

[22][23] The DYNC1H1 Association (dync1h1.org), a non-profit patient advocacy organization, was founded in 2023 with the goal of accelerating research into treatments for DYNC1H1-related disorders.