[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy].
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.
Klinik und Poliklinik für Neurologie der Westf. Wilhelms Universität Münster.
G
G
Kuhlenbäumer
M
M
Bocchicchio
W
W
Kress
P
P
Young
C
C
Oberwittler
F
F
Stögbauer
D003937:Diagnosis, Differential; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008526:Medulla Oblongata; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D018911:Trinucleotide Repeats / Q000235:genetics; D014960:X Chromosome
D011944:Receptors, Androgen
Die X-chromosomal rezessive spinobulbäre Muskelatrophie (Typ Kennedy). Beschreibung einer Familie, Klinik, molekulare Genetik, Differentialdiagnose und Therapie.