Spinal and bulbar muscular atrophy: pathogenesis and clinical management

Oral Diseases
Christopher GrunseichKenneth H Fischbeck

Abstract

Spinal and bulbar muscular atrophy, or Kennedy's disease, is an X-linked motor neuron disease caused by polyglutamine repeat expansion in the androgen receptor. The disease is characterised by weakness, atrophy and fasciculations in the limb and bulbar muscles. Affected males may have signs of androgen insensitivity, such as gynaecomastia and reduced fertility. Neurophysiological studies are typically consistent with diffuse denervation atrophy, and serum creatine kinase is usually elevated 2-5 times above normal. Progression of the disease is slow, and the focus of spinal and bulbar muscular atrophy (SBMA) management is to prevent complications.

References

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Citations

Nov 18, 2015·Journal of Molecular Neuroscience : MN·Paola RusminiA Poletti
Oct 31, 2015·Neurologic Clinics·Christopher Grunseich, Kenneth H Fischbeck
Oct 21, 2015·Journal of Molecular Neuroscience : MN·Josef Finsterer, Gianni Sorarù
Aug 26, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Nigel P MonganIeuan A Hughes
Jul 23, 2014·Neuromuscular Disorders : NMD·Christopher GrunseichKenneth H Fischbeck
May 5, 2016·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C BertolinGianni Sorarù
Feb 22, 2017·Indian Dermatology Online Journal·Varsha M ShettyRaghavendra Rao
Dec 23, 2017·Human Molecular Genetics·Eric VillalónChristian L Lorson
Feb 3, 2018·Journal of Oral and Maxillofacial Pathology : JOMFP·S J NithyaT Sarumathi
Aug 7, 2017·Journal of Neurology, Neurosurgery, and Psychiatry·Atsushi HashizumeGen Sobue
Jul 5, 2019·The International Journal of Neuroscience·Gaurava Srivastava, Preeti Srivastava
Nov 18, 2016·Journal of Neuromuscular Diseases·Tyler A LanmanChristopher Grunseich
May 17, 2020·International Journal of Molecular Sciences·Paola RusminiA Poletti
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Jan 7, 2019·Functional & Integrative Genomics·Xiaomin LiuJiyou Tang
Dec 19, 2020·Brain Sciences·Maria NolanoVincenzo Provitera
Jul 2, 2019·Biochemical and Biophysical Research Communications·Eric VillalónChristian L Lorson

Related Concepts

Spinopontine Atrophy
Cell Growth
Complication
Creatine Kinase
Limb Structure
Fertility
Gynecomastia
Motor Neurons
Muscle
Androgen Receptor

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