U.S. flag

An official website of the United States government

GTR Home > Tests > Kennedy's Disease (SBMA) DNA Test

Indication

This is a clinical test intended for Help: Diagnosis, Pre-symptomatic, Predictive

Clinical summary

Help

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

Help

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
Show all

Inheritance pattern

Help

X-linked recessive inheritance

Conditions tested

Target population

Help

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.