Unusual presentation of a not so rare disease: implications for the differential diagnosis of generalized dystonia (P2.115)

Background In the past three years we have systematically evaluated patients with dystonia syndromes in Brazil, to better understand its clinical and genetic profile. During this time, we came across two patients with similar presentation, who illustrate the challenges of the differential diagnosis in dystonia. Design/Methods We performed a thorough review of the clinical presentation, patients underwent brain MRI and molecular studies, DYT 1 and DYT 6. Results AN is a 23 year-old male with speech difficulty for 7 years, loss of coordination and rare falls. Physical examination showed dystonia of jaw opening, cervical and intention tremor, mild postural instability, slight inversion of right foot, horizontal nystagmus and brisk tendon reflexes in lower limbs. His relatives had progressive speech and gait disorder. DYT6 and DYT1 mutations were negative. On follow-up, we observed mild ataxia, which led to the molecular confirmation of SCA3 mutation. JBL is a 51 year-old male who suffered a hip and left inner ear trauma in 2002. He developed hearing loss, vertigo, weakness, shortness of breath and difficulty in keeping eyes open. Examination showed blepharospasm, pursing of lips, platismal contractions, cervical dystonia, strained voice, involuntary respiratory muscles contractions and feet inversion during gait. DYT6 and DYT1 sequencing showed no alterations. On the following visits, we noticed axial ataxia and he mentioned his aunts had vertigo. Molecular testing confirmed the SCA3 mutation. Conclusions Generalized dystonia is a diagnostic challenge because of its evolution in time and multiple etiologies. Despite the resemblance of isolated or familial dystonia, these two patients illustrate the need for careful reevaluation and stress the importance of exploring the past medical and family history. We believe that SCA3 should be considered in the differential diagnosis of dystonia, particularly in areas where the disease is relatively frequent. supported by fapesp Disclosure: Dr. Piovesana has nothing to disclose. Dr. Torres has nothing to disclose. Dr. Azevedo has nothing to disclose. Dr. Nunes has nothing to disclose. Dr. Amaral has nothing to disclose. Dr. Rosa has nothing to disclose. Dr. Franca, Jr. has nothing to disclose. Dr. Lopes-Cendes has nothing to disclose. Dr. D9Abreu has nothing to disclose.