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A 22-year-old woman with progressive ataxia and feet dystonia

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Presentation on theme: "A 22-year-old woman with progressive ataxia and feet dystonia"— Presentation transcript:

1 A 22-year-old woman with progressive ataxia and feet dystonia
Teaching NeuroImages Neurology Resident and Fellow Section © 2017 American Academy of Neurology

2 VIGNETTE 22-year-old woman
4-year history of progressive gait disturbance and slurred speech Examination Ataxia Nystagmus Pyramidal signs Bradykinesia Feet dystonia, without weakness of ankle dorsiflexion and plantar flexion Unremarkable family history for ataxia Rocha, et al. © 2017 American Academy of Neurology

3 VIDEO VIDEO 1 LEGEND: Cock-walk gait pattern characterized by a bilateral dystonic foot with metatarsophalangeal impact on the ground without touching the heels in a patient with spinocerebellar ataxia type 3. Patient walked with an extended trunk and flexed arms, while strutting on her toes without the heels touching the floor due to the dystonic posture. There was no improvement in walking backwards. Rocha, et al. © 2017 American Academy of Neurology

4 IMAGING FIGURE 1 LEGEND: Sagittal T1-weighted brain MRI showing mild cerebellar and brainstem atrophy (white arrows) in a patient with spinocerebellar ataxia type 3 (Machado-Joseph’s disease) and cock-walk gait. Rocha, et al. © 2017 American Academy of Neurology

5 Spinocerebellar ataxia type 3 presenting with a cock-walk gait phenotype
Cock-walk gait is characterized by dystonic foot, with walking on the metatarsophalangeal joints without touching the heels on the ground1. Although this is typically related to manganism, other diseases with basal ganglia involvement such as spinocerebellar ataxia type 32 may present with this phenotype. 1.Avelino MA, Fusão EF, Pedroso JL et al. Inherited manganism: the “cock-walk” gait and typical neuroimaging features. J Neurol Sci 2014; 341(1-2): 2. Nunes MB, Martinez AR, Rezende TJ, Friedman JH, Lopes-Cendes I, D'Abreu A, França MC Jr. Dystonia in Machado-Joseph disease: clinicalprofile, therapy and anatomical basis. Parkinsonism Relat Disord 2015;21(12):   Rocha, et al. © 2017 American Academy of Neurology

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