ELOVL5

Clinical Characteristics

Spinocerebellar ataxia 38 is a neurological disease. The name derives from the incapacity to coordinate voluntary muscles (ataxia) that generates symptoms that can be traced back to the functions of the cerebellum and spinal cord.

Patients usually show the first signs of the disease between 26 and 50 years of age: wide-based gait, unsteadiness, irregular steps and an increased risk of falling (gait ataxia), and involuntary horizontal/vertical movements of the eyes (nystagmus).
As the disease progress, other symptoms may become evident: incoordination of the limbs, altered articulation of speech, difficulty in swallowing, double vision, difficulty in eye movements, high-arched foot, decreased sensitivity to smells, and alterations of the peripheral nervous system showing as a numbing/burning sensations or muscle weakness.

An instrumental examination of the brain called Magnetic Resonance Imaging or MRI may show that the cerebellum (a structure of the brain) is smaller than usual (atrophy).

It is not uncommon for SCA38 patients to require walking assistance as well as an ongoing support for daily activities such as feeding, washing, and dressing.

Very few cases have been studied and we do not fully understand the course of the disease. In three subjects the disease lasted for about 40 years from the first symptoms to the patients’ demise.