It should be noted that spinocerebellar ataxias are an heterogeneous group of diseases with great clinical overlap, usually preventing a classification based solely on clinical data.
SCA38 is mostly a pure cerebellar form of ataxia.
Symptoms begin between the age of 26-50 yrs. with nystagmus and gait ataxia. Limb ataxia, dysarthria, dysphagia, diplopia, ophthalmoparesis and ophthalmoplegia, and peripheral nervous system involvement are more common in the later stages of the disease.
Pes cavus and hyposmia are frequent (82% and 76%, respectively) and might be distinctive signs of SCA38.
Hearing loss and an anxiety disorder have been reported in about 1/3 of patients, but their correlation with ELOVL5 variants is uncertain.
Brain MRI/CT scan show cerebellar atrophy without involvement of the cerebral cortex.
Nerve conduction studies/electromyography show a sensory and motor axonal polyneuropathy in all four extremities.
As the disease progress, patients may require assistance for walking (walking cane or wheelchair) as well as other normal daily activities such as feeding, washing, and dressing. Knowledge of the disease course is limited by the small number of reported cases. In three subjects, the mean disease duration was 41 years, and the age at death was 70, 80 and 91 years