Ophthalmological Features of Machado-Joseph Disease.

Machado-Joseph disease (MJD) or spinocerebellar ataxia type-3 (SCA3) is a rare and progressive neurodegenerative disorder, as well as the most frequently inherited spinocerebellar ataxia. It has extensive polymorphic features, described through a spectrum of neurological, and especially, ophthalmological manifestations. Besides the deterioration of the oculomotor systems, degeneration predominantly involves the cerebellar, pyramidal, extra-pyramidal, and peripheral motor systems. Few patients express Parkinsonian features as well. Through two separate cases, we present the major differences seen in the two patients, but also display their underlying similarities in the context of MJD; specifically, the ophthalmological features. The shared features include nystagmus in the horizontal direction, orbicularis oculi contractions, and bilateral esotropia. The findings indicate the importance of the inherent ophthalmological features expressed in MJD.

Late onset of atypical paroxysmal non-kinesigenic dyskinesia with remote history of Graves' disease.

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a rare hyperkinetic movement disorder and falls under the category of paroxysmal movement disorders. In this condition, episodes are spontaneous, involuntary, and involve dystonic posturing with choreic and ballistic movements. Attacks last for minutes to hours and rarely occur more than once per day. Attacks are not typically triggered by sudden movement, but may be brought on by alcohol, caffeine, stress, fatigue, or chocolate. We report a patient with multiple atypical features of PNKD. She had a 7-year history of this condition with onset at the age of 59, and a remote history of Graves' disease requiring total thyroidectomy. The frequency of attacks in our case ranged from five to six times a day to a minimum of twice per week, and the duration of episode was short, lasting not more than 2 min. Typically, PNKDs occur at a much younger age and have longer attack durations with low frequency. Administering clonazepam worked to reduce her symptoms, although majority of previous research suggests that pharmacological interventions have poor outcomes.