Vol.2, No.8, 437-438 (2013) Case Reports in Clinical Medicine
A case of mixed geno—Phenotype of generalized
dystonia and strumpel disease*
Vadim Belenky
Yavorskiy Homeopathic Clinic, Saint Petersburg, Russia; vadimbele@yahoo.com
Received 3 September 2013; revised 30 September 2013; accepted 29 October 2013
Copyright © 2013 Vadim Belenky. This is an open access article distributed under the Creative Commons Attribution License, which
permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Background: St rumpel disease and dystonia are
inherited disorders with the clinical picture of
spastic paraparesis and hyperkinesis respec-
tively. 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’ disor-
ders. Case report: Patient V., 12, born from his
father with generalized dystonia and mother
with Strumpel disease, has flaccid lower para-
plegia along with dystonic hyperkinesis in neck
and arms. Discussion: The flaccid lower para-
plegia could be caused by the anterior horn le-
sion. This phenomenon is unclear because an-
terior horn lesions were not diagnosed in the
proband’s parents.
Keywords: Dystonia; Strumpel Disease; DYT 1
Dystonia and Strumpel diseases, i.e. hereditory spastic
paraparesis (HSP), are heterogenious conditions; muta-
tions in more than 50 different genetic loci have been
described to cause HSP and more than 20 different ge-
netic forms of dystonia. Lesions of extrapyramidal sys-
tem are responsible for clinical signs of dystonia with
extrapyramidal rigidity in muscles. In case of Strumpel
disease with lower spastic paraparesis, caused by lesions
of corticospinal tract, spasticity in muscles grows by a
pyramidal type. Flaccid paresis is not characteristic for
either of these two disorders. Patient V., 12, born from
his father with generalized non-DYT 1 dystonia and
mother with Strumpel disease, has flaccid lower paraple-
gia along with hands and neck dystonia.
I first met patient S. with generalized non-DYT 1
dystonia in 1987 on summer practice at neurologic de-
partment, being a third year student of a medical school.
He then was 21. He fell ill at the age of 9 and soon in-
voluntary movements became generalized. None of his
relatives was affected by this disease. Though classical
research of Eldridge [1] established superior IQ of pa-
tients with recessive forms of dystonia, we observed very
clever and vivid mind in our patient. Later he married a
woman with indolently progressive Strumpel disease,
and their son inherited both parents’ diseases—from
early childhood he developed flaccid lower paraplegia
with complete absence of strength in legs and dystonic
hyperkinesis in neck and arms, while having IQ as high
as his father’s. The son underwent embryonal transplan-
tation surgery into his brain with no significant effect.
His father—patient S.—when hospitalized was given
L-Dopa with no effect. I started tryhehyphenidyl therapy
for patient S, which resulted in considerable improve-
ment in his condition. Test for DYT 1 proved negative.
Along with test results of my other primary dystonia pa-
tients from the monitored group his serotonin exchange
tended to be on the increase. His videoexamination was
conducted befo re tryhehyph enidyl therap y (Figures 1-3).
Unfortunately, the mother of the proband refused to
videotype her son after brutal murder of her hus-
band—patient S. on May 9th 2005—Russia’s national
Victory Day holiday; patient S. ventured to leave the
house in his wheelchair for the first time after the winter
and never got back. Later he was found dead with tens of
stab wounds and his neck cut.
More than 20 genetic loci of dystonia have been dis-
covered so far [2 ], but the clinical picture of the disorder
of our proband’s father, i.e. non DYT-1 early onset gen-
eralized autosomal dominant dystonia, differs from all
*Financial disclosure: The study was not funded.
Copyright © 2013 SciRes. OPEN ACCESS
V. Belenky / Case Reports in Clinical Medicine 2 (2013) 437-438
Figure 1. Patient S., father of proband, patient V., speaking.
Figure 2. Patient S., father of proband, patient V., sitting.
Figure 3. Patient S., father of proband, patient V., walking.
known phenotypes. The closest one is DYT-6 phenotype
with gene mutated on chromosome 8, encoding apop-
tosis-associated protein, but in this type of dystonia legs
are rarely affected. On the other side, Fasano et al., who
studied early-onset non-DYT-1 dystonia, revealed lower
limbs’ lesion in 37% of patients fro m this group [3 ]. The
above mentioned facts together might be indicative of a
possibility that the genetic defect, responsible for dysto-
nia in our family and probably in some of Fasano’s pa-
tients, diff ers from the 20 ones described so far.
Moderate flaccid paraparesis caused by partial loss of
anterior horn is rarely observed in some forms of HPS
[4]. However, total lower flaccid paraplegia can be ex-
plained by severe lesions of anterior horns. No such
cases have ever been published before either for Strum-
pel disease or for dystonia. We can suggest with great
caution that in this type of dystonia after loss of pyrami-
dal control cell-defects in anterior horns are displayed in
the form of flaccid paraplegia.
[1] Eldridge, R., Edgar, A. and Cooper, I.S. (1971) Genetics,
geography and intelligence in the torsion dystonias. Birth
Defects Original Article Series, 7, 167-177.
[2] Ozelius, L., Lubarr, N. and Bressman, S. (2011) Mile-
stones in dystonia. Movement Disorders, 6, 1106-1126.
[3] Fasano, A., Nardocci, N., Emanuele, A., Zorzi, G., Ben-
tivoglio, A. and Albanese, A. (2006) Non-DYT1 early-
onset primary torsion dystonia: Comparison with DYT1
phenotype and review of the literature. Movement Disor-
ders, 9, 1411-1418. http://dx.doi.org/10.1002/mds.21000
[4] Nomura, H., Koike, F., Tsuruta, Y., Iwaki, A., and Iwaki,
T. (2001) Autopsy case of autosomal recessive hereditary
spastic paraplegia with reference to the muscular patho-
logy. Neuropathology, 21, 212-217.
Copyright © 2013 SciRes. OPEN ACCESS