Spinal and Bulbar Muscular Atrophy (Kennedy disease)

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Spinal and bulbar muscular atrophy (Kennedy disease) rare neurodegenerative disease. It affects the nerve cells that control muscle movement. It is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood (between 30-60 years) and worsens slowly over time. Muscle wasting in the arms and legs results in muscle weakness that can also lead to difficulty in walking and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Some patients have also fertility problems.

Kennedy disease is caused by a trinucleotide CAG expansion in exon 1 of androgen receptor gene, AR. More than 38 repeats are pathogenic and are associated with the development of the disease. The AR gene is located on the X chromosome, therefore the disease is inherited in a X-linked recessive pattern. Males are predominantly affected.

Method

The number of CAG repeats in AR gene is analysed using PCR and subsequent fragment analysis in a Genetic Analyser.

Sample type: Peripheral blood in EDTA

Time to result: 2 weeks