Distinguishing clinical and electrodiagnostic features of X-linked bulbospinal neuronopathy

Muscle & Nerve
Matthew N MeriggioliD B Sanders

Abstract

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.

References

May 1, 1992·Neurology·E P HoffmanL P Rowland
Apr 1, 1991·Neurology·A J WindebankR Iverson
Feb 1, 1989·Brain : a Journal of Neurology·G SobueA Takahashi
Mar 1, 1987·Journal of Neurology, Neurosurgery, and Psychiatry·J WildeD Thrush
Dec 1, 1986·Neurology·K H FischbeckJ Borkowska
May 1, 1984·Reviews of Infectious Diseases·M C DalakasA Krezlewicz
Nov 1, 1982·Journal of Neurology, Neurosurgery, and Psychiatry·A E HardingJ R Ponsford
May 25, 1995·Annals of the New York Academy of Sciences·M C Dalakas
Mar 1, 1994·Acta Neurologica Scandinavica·W Trojaborg, C H Wulff
Jan 1, 1993·Acta Neurologica Scandinavica·C Ertekin, H Sirin
Oct 1, 1995·Trends in Neurosciences·B P Brooks, K H Fischbeck
Mar 1, 1997·Muscle & Nerve·M A Ferrante, A J Wilbourn
May 1, 1998·Seminars in Neurology·S T Iannaccone
Jul 1, 1963·Proceedings of the National Academy of Sciences of the United States of America·C M PEARSONS W WRIGHT

Citations

Jun 7, 2006·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Barbara TomikAndrzej Szczudlik
Mar 31, 2011·Disease-a-month : DM·Arif Dalvi, Ashvini Premkumar
Mar 26, 2009·Neuromuscular Disorders : NMD·Russell J ButterfieldKevin M Flanigan
Jun 4, 2005·Acta Neurologica Scandinavica·Jae-Hyeok LeeDae-Seong Kim
May 21, 2004·Internal Medicine Journal·K J Greenland, J D Zajac
Sep 12, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Ritsuko HanajimaYoshikazu Ugawa
Nov 18, 2015·Journal of Molecular Neuroscience : MN·Manu E Jokela, Bjarne Udd
Jun 11, 2003·Physical Medicine and Rehabilitation Clinics of North America·Lisa S Krivickas
Jan 28, 2003·Muscle & Nerve·Matthew N Meriggioli, Julie Rowin
Mar 1, 2004·Journal of Clinical Neuromuscular Disease·Cavit BozAhmet Karagüzel
Apr 15, 2005·Arquivos de neuro-psiquiatria·João Aris KouyoumdjianRogério Gayer Machado de Araújo
Aug 17, 2005·Arquivos de neuro-psiquiatria·Ana P TrentinLineu C Werneck
Jul 15, 2018·Journal of Neurology·Marianthi Breza, Georgios Koutsis

Related Concepts

Nerve Impulses
Electrodiagnosis
Electrophysiology (Science)
Mimetic Muscles
Genetic Linkage Analysis
Hereditary Motor Neuronopathy
Genealogical Tree
Tongue
X Chromosome
Muscle Weakness

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