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GTR Home > Tests > Mutation analysis for Spinobulbar muscular atrophy

Indication

This is a clinical test intended for Help: Diagnosis

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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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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