THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME
https://doi.org/10.20538/1682-0363-2015-6-115-118
Abstract
We present a rare case of Stark–Kaeser type scapuloperoneal syndrome type with mild weakness and hypotrophy in proximal limb, with rough paresis of feet, walking dysfunction and slowly-progressive course. The article briefly describes current views on the etiology and pathogenesis of this disease. The case is of interest to physicians of various specialties for the differential diagnosis of inherited neuromuscular disorders.
About the Authors
T. A. Valikova
State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
V. M. Alifirova
State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
I. V. Bychkova
State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation Ph. +7-913-884-0941
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation Ph. +7-913-884-0941
K. Yu. Sabashkina
State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
Russian Federation
Siberian State Medical University, Tomsk, Russian Federation
References
1. Quinzii C.M., Vu T.H., Hirano M. et al. X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1. American Journal of Human Genetics, 2008, Jan 10, vol. 82, no. 1, pp. 208–213. doi: 10.1016/j.ajhg.2007.09.013. Epub. 2008. Jan. 4.
2. Walter M.C., Reilich P., Huebner A. et al. Scapuloperoneal syndrome type Kaeser and a wide phenotypic spectrum of adult-onset, dominant myopathies are associated with the
3. desmin mutation R350P. Brain. 2007. Apr., vol. 130, pp. 1485–1496. doi:10.1093/brain/awm039. Epub. 2007. Apr. 17.
4. Bдr H., Fischer D., Goudeau B. et al. Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro. Human Molecular Genetics, 2005, May, vol. 14, no. 10, pp. 1251–1260. doi: 1 0.1093/hmg/ddi136. Epub. 2005. March. 30.
5. Yakhno N.N., Shtul’man D. R. (eds.). Bolezni nervnoy sistemy: Rukovodstvo dlya vrachey [Diseases of the Nervous System]. Moscow, Meditsina Publ., 2001. 594 p. (in Russian).
6.
Review
For citations:
Valikova T.A., Alifirova V.M., Bychkova I.V., Sabashkina K.Yu. THE CLINICAL CASE OF STARK–KAESER TYPE SCAPULOPERONEAL SYNDROME. Bulletin of Siberian Medicine. 2015;14(6):115-118. (In Russ.) https://doi.org/10.20538/1682-0363-2015-6-115-118
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