Dystonic syndromes based on genetic anomalies are reported only in a very few cases. W e report about a 26 years old male patient presenting with a n extreme form of a generalized dystonia. The patient's history is remarkable for a moderate delayed mentation, impaired motor development at the age of 2 years and reduced m o t o r capacities for cmrdinative tasks. An increasing dystonia with generalization f r o m the neck muscles to all the limbs w a s noticed from the age of 15 yrs. on. The actual neurological status shows a facial asymmetria, oral dyskinesia, a retrocollis, a scoliotic retroflection of the spine, a marked extroversion of the lower limbs with a probable muscular hypertonus. The tendon reflexes are normal, there a r e no pyramidal signs. As all the drug schemes currently used in dystonia were without any effect, a repeated injection of botulinum toxin w a s done successPully into the muscles of the neck.
The chromosomal type presented with a deletion of the short a r m on chromosome 18. The link of this deletion to the generalized dystonia requires an additional spontaneous mutation on the short a r m of the heterozygote chromosome. The chromosomal typing in the patient's parents showed no abormality; there w a s no consanguinity. The generalized dystonia is documented on videotape.