Title
The X-chromosomal recessive spinobulbar muscular atrophy (type Kennedy) : description of a family, clinical features, molecular genetics, differential diagnosis and therapyThe X-chromosomal recessive spinobulbar muscular atrophy (type Kennedy) : description of a family, clinical features, molecular genetics, differential diagnosis and therapy
Author
Publication type
article
Publication
Berlin,
Subject
Human medicine
Source (journal)
Der Nervenarzt. - Berlin
Volume/pages
69(1998):8, p. 660-665
ISSN
0028-2804
ISI
000075598200003
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
Abstract
The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness,fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
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