Differential diagnosis of motor neuron disease: a clinical case of X-linked spinal bulb atrophy
Keywords:
X-linked bulbospinal muscular atrophy, motor neuron diseases, differential diagnosis, spinal muscular atrophy, amyotrophic lateral sclerosisAbstract
The bulbospinal muscular atrophy is a rare disease entity with X-linked inheritance pattern,
being the gene coding for the androgen receptor the only one described that produces the
phenotype in question. It is characterized by a slow, progressive degeneration of neurons in
the bulbar motor nuclei of cranial nerves and spinal cord, which gives the manifestations of
lower motor neuron. The first symptoms are associated with hypersensitivity to androgens,
gynecomastia being the most important clinical sign. In this paper we present a case of spinal
atrophy bulb in which characteristics of clinical appearance and neurological observations are
reported.The aim of this article is to exemplify a diagnostic protocol for patients with motor
neuron disease, in which the most important is to recognize the syndromic and topographic
diagnosis from which the differential diagnoses to study are established, based on the most
frequent entities that reasonably explain the patient’s symptoms.
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References
Wood-Allum C, Shaw PJ. Motor neurone disease: a
practical update on diagnosis and management. Clinical
Medicine. 2010; 10 (3): 252-258.
La Spada AR, Wilson EM, Lubahn DB, Harding AE,
Fischbeck KH. Androgen receptor gene mutations in
X-linked spinal and bulbar muscular atrophy. Nature.
; 352: 77-79.
Kuhlenbäumer G, Kress W, Ringelstein EB, Stögbauer
F. Thirty-seven CAG repeats in the androgen receptor
gene in two healthy individuals. J Neurol. 2001; 248:
-26.
Atsuta N, Watanabe H, Ito M, Banno H, Suzuki K,
Katsuno M et al. Natural history of spinal and bulbar
muscular atrophy (SBMA): a study of 223 Japanese
patients. Brain. 2006; 129: 1446-1455.
Rhodes LE, Freeman BK, Auh S, Kokkinis AD, La Pean
A, Chen C et al. Clinical features of spinal and bulbar
muscular atrophy. Brain. 2009; 132: 3242-3251.
Nagashima T, Seko K, Hirose K, Mannen T, Yoshimura
S, Arima R et al. Familial bulbo-spinal muscular atrophy
associated with testicular atrophy and sensory neu-
ropathy (Kennedy-Alter-Sung syndrome). Autopsy case
report of two brothers. J Neurol Sci. 1988; 87: 141-152.
Sobue G, Matsuoka Y, Mukai E, Takayanagi T, Sobue
I, Hashizume Y. Spinal and cranial motor nerve roots
in amyotrophic lateral sclerosis and X-linked reces-
sive bulbospinal muscular atrophy: morphometric and
teased-fiber study. Acta Neuropathol. 1981; 55: 227-
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