Journal article
Abnormal eye movements in kennedy disease
Neurology, Vol.72(17), pp.1528-1530
2009
DOI: 10.1212/WNL.0b013e3181a2e936
PMCID: PMC2677481
PMID: 19398709
Abstract
Kennedy disease, also known as spinal and bulbar muscular atrophy, is a neurodegenerative disease affecting lower motor neurons.1 The underlying genetic abnormality, a triplet (CAG) repeat expansion in the androgen receptor gene on the X chromosome, produces a toxic polyglutamine expansion in the androgen receptor protein.2 The disease is characterized by slowly progressive proximal muscle atrophy, weakness, and fasciculations, with prominent bulbar involvement, tremor, and, reportedly, sparing of eye movements.1,3,4 Stigmata of androgen insufficiency, such as gynecomastia, may be present.3 We report a patient with genetically confirmed Kennedy disease who had abnormal eye movements.### Case report.A 58-year-old Caucasian man with a history of dyslipidemia and bilateral retinal detachments presented with progressive onset of proximal muscle atrophy, weakness, fasciculations, and tremor over 20 years. He also reported a progressive decline in mobility and fine motor control, as well as dysarthria and dysphagia. He denied sensory symptoms, sphincter disturbance, or visual symptoms, such as diplopia.On examination, there was atrophy of facial, bulbar, and limb muscles. Perioral, tongue, and limb muscle fasciculations were noted. There was moderate weakness of facial, palatal, tongue, and proximal limb muscles, with milder weakness of distal limb muscles. The reflexes were depressed and the plantar responses flexor. There were no cerebellar signs. Mild distal sensory loss was noted in the lower limbs. Visual acuity and color vision were within normal limits. Visual fields were full to confrontation. There was no optic atrophy, and his pupillary responses were normal. Ocular motor examination revealed a small exophoria, no …
Details
- Title: Subtitle
- Abnormal eye movements in kennedy disease
- Creators
- Matthew J ThurtellErik P PioroR. John Leigh
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.72(17), pp.1528-1530
- DOI
- 10.1212/WNL.0b013e3181a2e936
- PMID
- 19398709
- PMCID
- PMC2677481
- ISSN
- 1526-632X
- eISSN
- 1526-632X
- Language
- English
- Date published
- 2009
- Academic Unit
- Neurology; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980011002771
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