CRCM  Vol.2 No.8 , November 2013
A case of mixed geno—Phenotype of generalized dystonia and strumpel disease
Author(s) Vadim Belenky*
ABSTRACT
Background: Strumpel disease and dystonia are inherited disorders with the clinical picture of spastic paraparesis and hyperkinesis respectively. We present a case of a patient born from parents with these diseases who developed neurologic phenomena uncharacteristic for the classical clinical picture of his parents’ disorders. Case report: Patient V., 12, born from his father with generalized dystonia and mother with Strumpel disease, has flaccid lower paraplegia along with dystonic hyperkinesis in neck and arms. Discussion: The flaccid lower paraplegia could be caused by the anterior horn lesion. This phenomenon is unclear because anterior horn lesions were not diagnosed in the proband’s parents.

Cite this paper
Belenky, V. (2013) A case of mixed geno—Phenotype of generalized dystonia and strumpel disease. Case Reports in Clinical Medicine, 2, 437-438. doi: 10.4236/crcm.2013.28114.
References
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