No clinical practice guidelines for SCA27B have been published. The following recommendations are based on the authors' personal experience managing individuals with SCA27B.
There is no cure for SCA27B. The goals of treatment are to improve quality of life, maximize function, and reduce complications. This ideally involves multidisciplinary care by specialists in relevant fields, such as neurologists, ophthalmologists, physiotherapists, occupational therapists, speech and language therapists, and psychologists.
Agents and circumstances which may precipitate episodes of ataxia should be avoided, including alcohol intake and strenuous physical activity. Avoid medications with known toxicity to the cerebellum and the vestibular system.
Physiotherapy to maintain mobility and function is an important aspect of patient management. Patients should consider using walking aid (i.e. canes, walking sticks) if needed.
Although initial observations have shown a potentially beneficial effect of 4-aminopyridine to reduce the severity and frequency of ataxic symptoms and downbeat nystagmus in SCA27B, a confirmatory clinical trial is still needed.
Genetic counseling is a key aspect of the management of patients with SCA27B. SCA27B is inherited in an autosomal dominant manner. Each child of an individual with SCA27B has a 50% chance of inheriting the FGF14 expanded allele. The likelihood that offspring who inherit the FGF14 expanded allele will have a GAA repeat in the full penetrance (>300 FGF14 GAA repeats), reduced penetrance (250-300 FGF14 GAA repeats), or non-pathogenic range (< 250 FGF14 GAA repeats) is influenced by intergenerational instability (see Molecular characteristics). The of the GAA repeat is more likely to expand in transmission to offspring if the proband is female and to contract in transmission if the proband is male.
FGF14