Kennedy Disease Flashcards
1
Q
What are the symptoms of Kennedy Disease?
A
Weakness and wasting of muscles closer to trunk (proximal muscles)
Weakness and wasting of bulbar muscles (face and throat)
Early symptoms: tremor, muscle cramps, muscle twitching
May have enlarged breast, testicular atrophy, reduced fertility, erectile dysfunction
2
Q
What genes are involved in Kennedy diseae?
A
Unstable expansion of CAG triplet repeat on exon 1 of androgen receptor (AR) gene on chromosome Xq11-12
3
Q
What is the inheritance patten of Kennedy disease?
A
X-linked recessive
4
Q
What is the phenotype of the heterozygote of Kennedy disease?
A
Normal females
