Stiff-person syndrome with early onset in infancy

S. A. Malmberg; Мальмберг С. А.; E. L. Dadali; Дадали Е. Л.; D. B. Jumakchanov; Жумаханов Д. Б.; A. Kch. Djaksibaeva; Джаксыбаева А. Х.

doi:10.17650/2222-8721-2015-5-2-38-43

Stiff-person syndrome with early onset in infancy

Authors: Malmberg S.A.¹, Dadali E.L.², Jumakchanov D.B.³, Djaksibaeva A.K.³
Affiliations:
1. Department of Clinical Physiology and Functional Diagnosis of Institute of Advanced Training at FMBA of Russia
2. Federal State Budget Research Institution “Research Centre of Medical Genetics”
3. National Research Center for Maternal and Child Health
Issue: Vol 5, No 2 (2015)
Pages: 38-43
Section: CLINICAL DISCUSSION
Published: 29.06.2015
URL: https://nmb.abvpress.ru/jour/article/view/116
DOI: https://doi.org/10.17650/2222-8721-2015-5-2-38-43
ID: 116

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Abstract

The case of stiff-person syndrome with benign course in 16-years old patient is presented. The initial clinical signs of the disease were observed in infancy with retarded development of motor functions and skeleton muscle lumps. The diagnosis was made using generally accepted clinical and electromyographical criteria. Aspects of differential diagnosis, pathogenesis and clinical course polymorphism in early-onset cases of the disease are discussed.

Keywords

stiff-person syndrome, muscle rigidity, painful muscle spasms, early-onset case, differential diagnosis, axial muscles, motor unit hyperactivity, glutamic acid decarboxylase, GABA, electromyography

About the authors

S. A. Malmberg

Department of Clinical Physiology and Functional Diagnosis of Institute of Advanced Training at FMBA of Russia

Author for correspondence.
Email: sergej.malmberg@gmail.com
20, Moskvorechye Str., Moscow, 115409, Russia. Federal State Budget Healthcare Institution “Central Children Clinical Hospital” at FMBA of Russia Russian Federation