Baseline characteristics (n = 15) | |
---|---|
Gender: | |
Male (n, %) | 9.0(60.0%) |
Female (n, %) | 6.0(40.0%) |
Mean age of presentation (years,(SD)) | 35.6(±9.2) |
Mean age of onset (years, (SD) | 31.2(±8.1) |
Mean duration of illness (years, (SD)) | 4.5(±2.9) |
Median time to wheel chair (months, (IQR)) | 12.0(12.0–24.0) |
Median time to ophthalmoplegia (months, IQR)) | 12.0(6.0–21.0) |
Mean SARA at baseline score (score (SD)) | 12.3(±8.9) |
Phenotypic Characteristics (n, %) | |
Broken smooth pursuit | 7(46.7) |
Square jerk fixation | 7(46.7) |
Downbeat nystagmus | 4(26.7) |
Gaze evoked horizontal nystagmus | 8(53.3.) |
Gaze evoked vertical nystagmus | 3(20.0) |
Ophthalmoparesis on horizontal nystagmus | 7(46.7) |
Opthalmoparesis vertical gaze | 7(46.7) |
Slowing saccades | 7(46.7) |
Hypermetric saccades | 3(20.0) |
Hypometric saccades | 7(46.7) |
Diplopia | 7(46.7) |
Ophthalmoplegia | 7(46.7) |
Hyperreflexia | 9(60.0) |
Extensor plantar reflex | 3(20.0) |
Clonus | 2(13.3) |
Spasticity | 6(40.0) |
Rigidity | 2(13.3) |
Resting tremor | 0 (0) |
Dystonia | 2(13.3) |
Paresis | 0 (0) |
Muscle atrophy | 2(13.3) |
Fasciculation | 2(13.3) |
Chorea | 0 (0) |
Impaired vibration sense | 1(6.7) |
Dysarthria | 14(93.3) |
Dysphagia | 3(20.0) |
Cognitive impairment | 1(6.7) |