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Disease name
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Kennedy disease
Kennedy disease
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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AR
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Xq12 |
Androgen receptor |
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Prevalence
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1-9 / 100 000 |
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Inheritance
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X 연관 열성 |
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Age of onset
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성인기 |
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ICD 10 code
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G12.2 |
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MIM number
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313200
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Synonym
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Spinal and bulbar muscular atrophy |
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X-linked bulbospinal amyotrophy |
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Summary
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Kennedy disease is a progressive neuromuscular disorder in which degeneration of the lower motor neurons results in proximal muscle weakness, muscle atrophy, and fasciculations. It occurs only in males. The estimated prevalence in the European population is around 1 in 36 000. Patients often show gynecomastia, testicular atrophy, and reduced fertility due to androgen insensitivity. Kennedy disease is inherited as an X-linked recessive trait. The diagnosis is based on the evidence of an expansion of a CAG trinucleotide repeat (> 38 CAGs) in the androgen receptor gene on the X chromosome. |
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