Skip to content
Use your HSA or FSA funds

Condition report · Neurological

Kennedy Disease (SBMA)

An adult-onset X-linked condition in which motor nerve cells slowly degenerate, causing muscle weakness, cramps and difficulty with speech and swallowing. Men are affected, often with hormonal features such as breast enlargement; women can be carriers.

A condition report looks for rare variants known to cause the conditions it covers.

Included with every kit

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test

The condition we analyse

X-linked recessive

A slowly progressive motor neuronopathy caused by an expanded CAG repeat in the androgen receptor (AR) gene, with limb and bulbar weakness and mild androgen insensitivity.

What a diagnosis changes

Physiotherapy, speech and swallowing assessment, endocrine follow-up, and genetic counselling for female relatives who may be carriers.

Genes analysed

Also known as

Kennedy's disease; SBMA; SMAX1; spinal and bulbar muscular atrophy of Kennedy, X-linked recessive; spinal and bulbar muscular atrophy, X-linked 1; spinal and bulbar muscular atrophy, X-linked type 1; X-linked BSMA; X-linked bulbospinal amyotrophy; X-linked bulbospinal muscular atrophy; X-linked spinal and bulbar muscular atrophy

MONDO:0010735OMIM 313200Orphanet 481MedGen 333282

Limitations

  • Kennedy disease is caused by an expanded CAG repeat in the AR gene. Repeat expansions are not reliably detected or sized by our standard whole genome small-variant analysis, so a negative result does not rule out the condition or carrier status. Learn more

Other neurological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Get my Genome Test