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Updated: Aug 13, 2026
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Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy
Published on: May 24, 2016
[X-linked recessive bulbospinal neuropathy (Kennedy syndrome)]
C H Wulff1, S A Sørensen, W Trojaborg
1Department of Internal Medicine, Armed Forces Hospitals Southern Region, Khamis Mushayt, Kingdom of Saudi Arabia.
Ugeskrift for Laeger
|November 13, 1995
Summary
This report details a case of X-linked recessive bulbospinal neuronopathy. Genetic analysis revealed expanded CAG repeats, consistent with chronic motor and sensory axonopathy.
Area of Science:
- Neurology
- Genetics
- Neurophysiology
Background:
- X-linked recessive bulbospinal neuronopathy is a rare neuromuscular disorder.
- Understanding its genetic basis and clinical presentation is crucial for diagnosis.
Observation:
- A case study of a patient with X-linked recessive bulbospinal neuronopathy was presented.
- Clinical observations included symptoms indicative of nerve damage.
Findings:
- Neurophysiological assessments indicated chronic partial denervation, specifically motor axonopathy and large fiber sensory axonopathy.
- DNA analysis identified an abnormally increased number of tandem CAG repeats, a known genetic marker for certain neurodegenerative disorders.
Implications:
- This case contributes to the understanding of X-linked recessive bulbospinal neuronopathy.
- The findings highlight the importance of genetic testing and neurophysiological evaluation in diagnosing such conditions.
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