RIGID SPINE SYNDROME: A CASE REPORT

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SOLTANI M.; HAGHIGHI A.

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Journal: Hormozgan Medical Journal Year:2003 | Volume:7 | Issue:2 Page(s): 100-103

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Title

RIGID SPINE SYNDROME: A CASE REPORT

Author(s)

SOLTANI M. | HAGHIGHI A. | Issue Writer Certificate

Keywords

MUSCLE WEAKNESSQ3

MUSCULAR DYSTROPHYQ4

SPINEQ3

SYNDROMEQ3

Abstract

Introduction: Rigid SPINE SYNDROME (RSS) is a term first proposed by Dubowitz to describe a subset of patients affected by myopathy with early spinal contractures as a prominent feature. Recently the first locus for RSS was mapped to chromosome 1p35-p36. Case: We present here a 12 year-old boy complained of generalized weakness and stiffness and gait disorder from two years ago. Who referred to Shahid Mohammadi Hospital Bandar Abbas, Iran. Flexion contracture of the elbows and loss of motion of SPINE and proximal weakness were the main findings. Radiographs of the affected joints were normal. ECG was normal. CPK and LDH were moderately elevated. A myopathic pattern was noted on EMG. A muscle biopsy showed extensive fiber necrosis with nuclear internalization that suggest MUSCULAR DYSTROPHY so this case can be presented as a rare case of RSS in Iran. Conclusion: Muscle biopsy of these patients shows unspecific pathologic variations, but genetic investigation of these patients can help in definite diagnosis of the disease.

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APA: Copy

SOLTANI, M., & HAGHIGHI, A.. (2003). RIGID SPINE SYNDROME: A CASE REPORT. HORMOZGAN MEDICAL JOURNAL, 7(2), 100-103. SID. https://sid.ir/paper/60711/en

Vancouver: Copy

SOLTANI M., HAGHIGHI A.. RIGID SPINE SYNDROME: A CASE REPORT. HORMOZGAN MEDICAL JOURNAL[Internet]. 2003;7(2):100-103. Available from: https://sid.ir/paper/60711/en

IEEE: Copy

M. SOLTANI, and A. HAGHIGHI, “RIGID SPINE SYNDROME: A CASE REPORT,” HORMOZGAN MEDICAL JOURNAL, vol. 7, no. 2, pp. 100–103, 2003, [Online]. Available: https://sid.ir/paper/60711/en

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