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.