Spinobulbar muscular atrophy (Kennedy’s disease)
Analysis ID 112
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Spinobulbar muscular atrophy (Kennedy’s disease)
OMIM #313200
Clinical information Kennedy’s disease, i.e. spinal and bulbar muscular atrophy (SBMA) is a genetic disorder most often caused by the expansion of trinucleotide CAG repeat in the exon 1 of the AR gene (androgen receptor, located on the X chromosome). The aberrant number of repeats ranges from 38 to 62, while normal number of repeats is from 10 to 36. Characteristic symptoms include gait and movement disturbances due to a progressive spinal cord and medullar atrophy. Insensibility to androgens appears after 4th decade of life. Resistance to androgens manifests in gynecomastia, azoospermia, impotence, and testicular degeneration at so far healthy and fertile man.
Type of analysis molecular
Type of biological material
Analyzed genes AR
Analysis description
Analysis indication Symptoms of Kennedy’s disease
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders