[Familial case of late recessive X-linked Kennedy's spinal and bulbar amyotrophy].
The authors describe a familial case of Kennedy's spinal amyotrophy. In three brothers of the R. family, the disease was marked by the appearance in the 4th-5th decade of life of myasthenia in the proximal parts of the limbs and of bulbar symptoms, which will run a slow-progressive course. Since the young age all the patients manifested gynecomastia. Besides, later one of the brothers developed scirrhus of the left mammary gland. Clinically, Kennedy's spinal amyotrophy in the R. family manifested itself by asymmetric distribution of myotrophies (more pronounced in the left limbs), bilateral Dupuytren's contractures in the hands. Apart from the signs of injuries to motoneurons of the anterior horns, electromyography and electroneuromyography have shown the peripheral nerves to be involved into the pathological process.
Badalian
L O
LO
Temin
P A
PA
Arkhipov
B A
BA
Zavadenko
N N
NN
Bulaeva
N V
NV
Lysov
V L
VL
D000367:Age Factors; D004387:Dupuytren Contracture / Q000235:genetics; D004576:Electromyography; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
Semeĭnyĭ sluchaĭ pozdneĭ retsessivnoĭ X-stseplennoĭ spinal'noĭ i bul'barnoĭ amiotrofii Kennedi.