Kennedy disease in an Italian kindred.
An X-linked adult-onset neurogenic muscular atrophy, chiefly proximal, with late involvement of the distal musculature and medulla oblongata was present in 4 members of a single kindred. Associated in all patients were gynecomastia, impotence and essential tremor. Frederickson type IV hyperlipemia was present in 1 patient. Hormonal stimulation tests in 2 patients elicited a borderline low testicular response in the younger of the 2 and a pathological response in the older patient. On the evidence of these and previously reported cases, Kennedy disease would appear to be characterized by an X-linked proximal neurogenic amyotrophy of adult onset and by a testicular endocrine deficit.
D
D
Guidetti
L
L
Motti
N
N
Marcello
E
E
Vescovini
A
A
Marbini
C
C
Dotti
B
B
Lucci
F
F
Solimè
D000368:Aged; D004576:Electromyography; D005121:Extremities; D006801:Humans; D008297:Male; D008875:Middle Aged; D009120:Muscle Cramp / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010375:Pedigree; D013131:Spine