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Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.

Publication ,  Journal Article
Meriggioli, MN; Rowin, J; Sanders, DB
Published in: Muscle Nerve
December 1999

X-linked bulbospinal neuronopathy (XLBSN) or Kennedys disease is a rare inherited neuromuscular disease characterized by adult-onset muscle weakness, usually in a limb-girdle distribution. It is frequently misdiagnosed despite a distinctive clinical presentation, usually due to the absence of a clear family history, and perhaps also due to failure of recognition. Accurate diagnosis is crucial for genetic counseling purposes and because alternative diagnoses usually carry a poorer prognosis. We evaluated 4 patients with XLBSN and one symptomatic female heterozygote patient. Based on our clinical observations in these patients and a systematic review of previously reported cases, the following clinical and electrophysiologic features when present in the setting of adult-onset muscle weakness, are strongly suggestive of the disorder: 1) facial weakness, 2) facial twitching or fasciculations, 3) tongue weakness and atrophy, 4) postural hand tremor, 5) hypo- or areflexia, and 6) absent or low-amplitude sensory nerve action potentials despite clinically normal sensation. We also hypothesize regarding the possibility of partial expression of the abnormal XLBSN gene in a symptomatic heterozygote female patient.

Duke Scholars

Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

December 1999

Volume

22

Issue

12

Start / End Page

1693 / 1697

Location

United States

Related Subject Headings

  • X Chromosome
  • Tongue
  • Pedigree
  • Neurology & Neurosurgery
  • Muscular Atrophy, Spinal
  • Muscle Weakness
  • Middle Aged
  • Male
  • Humans
  • Genetic Linkage
 

Citation

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Meriggioli, M. N., Rowin, J., & Sanders, D. B. (1999). Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve, 22(12), 1693–1697. https://doi.org/10.1002/(sici)1097-4598(199912)22:12<1693::aid-mus11>3.0.co;2-s
Meriggioli, M. N., J. Rowin, and D. B. Sanders. “Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.Muscle Nerve 22, no. 12 (December 1999): 1693–97. https://doi.org/10.1002/(sici)1097-4598(199912)22:12<1693::aid-mus11>3.0.co;2-s.
Meriggioli MN, Rowin J, Sanders DB. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve. 1999 Dec;22(12):1693–7.
Meriggioli, M. N., et al. “Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy.Muscle Nerve, vol. 22, no. 12, Dec. 1999, pp. 1693–97. Pubmed, doi:10.1002/(sici)1097-4598(199912)22:12<1693::aid-mus11>3.0.co;2-s.
Meriggioli MN, Rowin J, Sanders DB. Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy. Muscle Nerve. 1999 Dec;22(12):1693–1697.
Journal cover image

Published In

Muscle Nerve

DOI

ISSN

0148-639X

Publication Date

December 1999

Volume

22

Issue

12

Start / End Page

1693 / 1697

Location

United States

Related Subject Headings

  • X Chromosome
  • Tongue
  • Pedigree
  • Neurology & Neurosurgery
  • Muscular Atrophy, Spinal
  • Muscle Weakness
  • Middle Aged
  • Male
  • Humans
  • Genetic Linkage