Defects in
axonal transport, of which dynein plays a key role, have been implicated in conditions ranging from developmental defects in the brain to
neurodegenerative disease. These as a whole are considered to be DYNC1H1-Related Disorders Recent data implies that DYNC1H1-Related Disorders should be considered progressive, though the trigger and symptoms of that progress vary from patient to patient. The vast majority of these are missense mutations. Due to a high degree of pleiotropy, the genotype-phenotype spectrum is still developing. Given the heterogeneity of symptoms, large gene size, and the high conservation of the gene, it is likely that many patients remain undiagnosed. 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. as well as
spinal muscular atrophy with lower extremity predominance 1 (SMA-LED1). Another symptom is Autosomal dominant non-syndromic intellectual disability. DYNC1H1 gene variants have been increasingly correlated with Amyotrophic lateral sclerosis, malformations of cortical development, and seizure disorders. It is estimated that roughly 40% of patients with DYNC1H1 gene variants have epilepsy, and 80-92% of those with DYNC1H1-related epilepsy have malformations of cortical development, including both lissencephaly and polymicrogyria. == Society and Culture ==