KIF5A

Clinical Characteristics

ALS is characterised by adult onset of muscle spasm and weakness, poor coordination, trouble swallowing, drooling, lack of restraint, and mild cognitive impairment (MIM Phenotype number 617921).

Phenotypes commonly presented in HSP (MIM Phenotype number 604187) include gradual weakness and stiffness of muscles, involuntary spasms, and urinary incontinence. Symptoms may present themselves in childhood or young adulthood, and gradually worsen over time.

Some of characteristic phenotypes associated with Charcot-Marie-Tooth disease (CMT2) include weakness in the lower limbs, curled toes, and decreased sensation in the legs and feet (MIM Phenotype number 606482).