Atrophie bulbo-spinale liée à l'X: Une maladie rare mais un diagnostic différentiel fréquent de la sclérose latérale amyotrophique

Translated title of the contribution: SBMA: A rare disease but a classic ALS mimic syndrome

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1 Citation (Scopus)


Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative disorder of lower motor neurons characterized by proximal limb muscular atrophy, bulbar involvement, marked fasciculation, hand tremor and gynaecomastia. SBMA is caused by a CAG-repeat expansion in the androgen receptor gene on the X-chromosome. Due to its mode of transmission, only male are symptomatic and clinical features appear progressively in adulthood. Motor signs and symptoms are restricted to lower motor neuron involvement, in contrast with amyotrophic lateral sclerosis (ALS) characterized by the association with upper motor neuron involvement. The diminution of sensory potential at electroneuromyogram is a major criteria discriminating between SBMA and ALS.Diagnostic confirmation is based on genetic testing.

Translated title of the contributionSBMA: A rare disease but a classic ALS mimic syndrome
Original languageFrench
Pages (from-to)580-586
Number of pages7
JournalPresse Medicale
Issue number5
Publication statusPublished (in print/issue) - 1 Jan 2014


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