[A case of familial spastic paraplegia with the onset in early childhood].
A family in which 9 persons in three generations suffered from "pure" Strümpell's disease is described. The disease made is debut in early childhood and was characterized by slightly marked intrafamilial polymorphism. An electromyographic study was made. It has been proved that the pattern described is a "pure" disease variety inherited by the autosomal dominant type, with an early development of the clinical manifestations and slow progress of motor disturbances (up to 25 years). The nosology of the given disease pattern is under discussion.
Badalian
L O
LO
Iadgarov
I S
IS
Arkhipov
B A
BA
Temin
P A
PA
Bulaeva
N V
NV
Nurmatov
Ia I
IaI
Melkumova
I A
IA
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001132:Arm / Q000294:innervation; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D007223:Infant; D007866:Leg / Q000294:innervation; D008875:Middle Aged; D009132:Muscles / Q000294:innervation / Q000503:physiopathology; D010375:Pedigree; D012026:Reflex, Stretch / Q000502:physiology; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D013997:Time Factors
Sluchaĭ semeĭnoĭ spasticheskoĭ paraplegii s debiutom v rannem detskom vozraste.