Familial adult-onset muscular dystrophy with leukoencephalopathy.
We report on 3 siblings with an adult-onset, predominantly distal muscle weakness. In the female index patient this was associated with epilepsy and a progressive spastic ataxic gait, while the 2 other siblings had no appreciable clinical nervous system involvement. Additional investigations revealed muscular dystrophy and leukoencephalopathy in all 3 siblings. We conclude that this familial adult-onset muscular dystrophy associated with leukoencephalopathy represents a newly recognized autosomal recessive syndrome.
van Engelen
B G
BG
Institute of Neurology, University Hospital, Nijmegen, The Netherlands.
Leyten
Q H
QH
Bernsen
P L
PL
Gabreëls
F J
FJ
Barkhof
F
F
Joosten
E M
EM
Hamel
B C
BC
ter Laak
H J
HJ
Ruijs
M B
MB
Cruysberg
J R
JR
D000255:Adenosine Triphosphate / Q000378:metabolism; D000328:Adult; D004796:Clinical Enzyme Tests; D003402:Creatine Kinase / Q000097:blood; D004569:Electroencephalography; D004576:Electromyography; D005190:Family; D005260:Female; D006801:Humans; D007968:Leukoencephalopathy, Progressive Multifocal / Q000150:complications / Q000235:genetics*; D008297:Male; D009132:Muscles / Q000378:metabolism; D009136:Muscular Dystrophies / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree
D000255:Adenosine Triphosphate; D003402:Creatine Kinase