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Perspectives of Kennedy's disease
1Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
Journal of the Neurological Sciences
|September 18, 2010
Summary
Kennedy's disease (bulbospinal muscular atrophy) is an X-linked disorder caused by CAG-repeat expansion in the androgen-receptor gene. Diagnosis requires over 40 repeats, with symptomatic treatment available for progressive muscle weakness and other symptoms.
Area of Science:
- Neurology
- Genetics
- Molecular Biology
Background:
- Kennedy's disease, or bulbospinal muscular atrophy (BSMA), is a rare, adult-onset, X-linked, recessive trinucleotide repeat disorder.
- It is caused by the expansion of CAG-tandem repeats in the androgen-receptor (AR) gene, leading to polyglutamine (poly-G) expansion.
Observation:
- Poly-Q-expanded AR accumulates in neuronal nuclei, leading to fragmentation and subsequent degeneration of motor neurons and dorsal root ganglia.
- Clinical manifestations include muscle weakness and wasting (facial, bulbar, extremity), sensory disturbances, and endocrinopathies like gynecomastia and reduced fertility.
- Muscle biopsy may show neuropathic or myopathic changes, with varying degrees of hyper-CK-emia and hormonal imbalances observed.
Findings:
- Diagnosis of BSMA is confirmed when the number of CAG-repeats exceeds 40.
- The disease course is slowly progressive, with loss of ambulation occurring late in life.
- Life expectancy is only slightly compromised, and few patients require ventilatory support.
Implications:
- Currently, no causal therapy exists for Kennedy's disease.
- Symptomatic treatments can alleviate muscle weakness, tremor, endocrinological issues, cramps, dysphagia, and respiratory failure.
- Understanding the molecular mechanisms of AR aggregation and neuronal degeneration is crucial for developing future therapeutic strategies.
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