ELOVL5

Management

After the diagnosis, a series of clinical and instrumental exams are recommended:

  • Genetic counselling
  • Neurologic evaluation
  • Brain MRI
  • Ophthalmologic evaluation
  • Baseline hearing test

An annual clinical examination with an experienced physician should be programmed.

A long-term study in nine SCA38 patients has recently demonstrated that a 600 mg/die docosahexaenoic acid (DHA) oral supplementation is associated with improvement of clinical symptoms and increase of cerebellar metabolism, with no notable side effects. It is not known if treating pre-symptomatic subjects, carrying ELOVL5 heterozygous mutations, with DHA will delay the onset of the disease.

No other disease-specific treatments are available at the moment and all SCA38 symptoms should be managed no differently than in other patients, following clinical and therapeutic recommendations. In particular:

  • Physical activity should be preserved accordingly to the individual condition.
  • Walking aids and home adaptations may be necessary.
  • Dysarthria may benefit from speech/language therapy.
  • Dysphagia should be explored with a dynamic swallowing study.
  • Hearing aids should be considered in patients with hearing loss.

Conditions associated with impairment in both mobility (weight gain) and cerebellar function (alcohol and some medications) should be avoided.