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GTR Home > Tests > Spinobulbar Musc Atrophy, Kennedy's

Indication

This is a clinical test intended for Help: Diagnosis, Predictive, 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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Inheritance pattern

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X-linked recessive inheritance

Conditions tested

Target population

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Individuals with clinical features of spinobulbar muscular atrophy

Citations

  • Pinsky L, Beitel LK, Trifiro MA: Spinobulbar Muscular Atrophy. In The Metabolic and Molecular Basis of Inherited Disease. Vol 4. 8th edition. Edited by CR Scriver. AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 4147-4157

Clinical validity

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Not provided

Clinical utility

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Establish or confirm diagnosis

Citations
  • Pinsky L, Beitel LK, Trifiro MA: Spinobulbar Muscular Atrophy. In The Metabolic and Molecular Basis of Inherited Disease. Vol 4. 8th edition. Edited by CR Scriver. AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 4147-4157

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