A case of mixed geno—Phenotype of generalized dystonia and strumpel disease
نویسنده
چکیده
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.
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