Kennedy disease (SBMA): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Kennedy disease (SBMA): investigations. Kennedy disease is caused by an androgen receptor (AR) gene mutation. Fully referenced neurology checklist.

Genetics

  • Kennedy disease is caused by an androgen receptor (AR) gene mutation
  • This results in CAG repeat expansions
  • There is no genetic anticipation
  • Onset is in adolescence
  • UBA1 gene mutations have also been reported in those without AR gene mutations

CAG repeat expansion sizes

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Muscle enzymes elevated

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Magnetic resonance imaging (MRI)

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Positron emission tomography (PET) scan

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Blood tests

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Investigational treatments

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Synonym

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References

  1. Bertorini TE. Neuromuscular Case Studies. Butterworth Heinemann Philadelphia. 2008 p258.
  2. Khani M, Nafissi S, Shamshiri H, et al. Identification of UBA1 as the causative gene of an X-linked non-Kennedy spinal-bulbar muscular atrophy. Eur J Neurol 2022; 29:3556-3563.
  3. Kassubek J, Juengling FD, Sperfeld A-D. Widespread white matter changes in Kennedy disease: a voxel based morphometry study. JNNP 2007; 78:1209-1212.
  4. Lai TH, Liu RS, Yang BH, Wang PS, Lin KP, Lee YC, Soong BW. Cerebral involvement in spinal and bulbar muscular atrophy (Kennedy's disease): a pilot study of PET. J Neurol Sci 2013; 335:139-144.
  5. Querin G, Bertolin C, Da Re E, et al; Italian Study Group on Kennedy's disease. Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients. JNNP 2016; 87:810-816.
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