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GTR Home > Tests > Androgen receptor (AR) gene CAG triplet repeat test

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment

Clinical summary

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Imported from GeneReviews

Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Dysphagia
  • Dysarthria
  • Fasciculations
  • Gynecomastia
  • Abnormality of the mouth
  • Peripheral neuropathy
  • Muscle spasm
  • Tremor
  • Sensory neuropathy
  • Testicular atrophy
  • Elevated circulating creatine kinase concentration
  • Limb muscle weakness
  • Hyporeflexia
  • Decreased fertility
  • Calf muscle hypertrophy
  • Bulbar palsy
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Conditions tested

Target population

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Spinal Muscular Atrophy patients

Citations

  • Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. - PubMed ID: 2062380

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

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