P230: Exome sequencing utilization and diagnostic rate in an adult genetics clinic

Treatment Outcomes: Several medications were tried in this cohort, including dalfampridine, clonazepam, riluzole, 4-aminopyridine, amantadine, and acetazolamide.Some patients reported modest improvement with medications like dalfampridine or amantadine, while others experienced no benefit or side effects.MRI Brain: There was mild cerebellar atrophy, most often affecting the vermis, seen in about 50% of the cases.This finding did not seem to correlate with severity or progression of the symptoms.EMG was performed on nine of the sixteen patients (56%), revealing a spectrum of findings ranging from normal results to sensory and motor neuropathy, axonal sensorimotor polyneuropathy, radiculopathy, and carpal tunnel syndrome (18% EMGs were abnormal).Vestibular evaluation was conducted in nine of the sixteen participants (56%) and yielded normal results in all cases, suggesting a central origin for the imbalance and vertigo.Conclusion: This retrospective study of case series underscores the complex and variable clinical presentation of SCA27B, characterized by prominent cerebellar dysfunction and ocular symptoms.Clinicians should suspect SCA27B in middle aged to older patients presenting with imbalance, often trigged by movement, downbeat nystagmus and gait difficulties.MRI Brain showed mild cerebellar atrophy often involving vermis in about 50% of the patients, this however did not correlate with severity or duration of symptoms in our cohort.Periodic genetic reevaluation of patients with negative genetic workup in the past is essential as the intronic expansion of FGF14 was only recently described.Larger cohort studies looking at the natural history and progression of this disorder is imperative for a deeper understanding of the full spectrum of SCA27B manifestations and develop more effective strategies for diagnosis, management, and treatment.