Rigid Spine Syndrome

Overview

Journal J Neurol Neurosurg Psychiatry

Publisher BMJ Publishing Group

Specialties Neurology
Neurosurgery
Psychiatry

Date 1979 Mar 1

PMID 438838

Citations 8

Authors

I Goto

S Nagasaka

H Nagara

Y Kuroiwa

Affiliations

Soon will be listed here.

Abstract

A patient is described with distinctive clinical features including childhood onset of non-progressive muscle weakness, limitation of flexion of the neck and spine, scoliosis, and joint contracture. Muscle biopsy and electromyography showed findings suggestive of a myopathic disorder. The combination of these distinctive clinical features is termed the rigid spine syndrome. Only six cases have been reported in the literature to date.

Citing Articles

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bonnemann C Am J Hum Genet. 2002; 71(4):739-49.

PMID: 12192640 PMC: 378532. DOI: 10.1086/342719.

Rigid spine syndrome: clinical and histological problems.

Goto I, Muraoka S, Fujii N, Ohta M, Kuroiwa Y J Neurol. 1981; 226(2):143-8.

PMID: 6186785 DOI: 10.1007/BF00313443.

The rigid spine syndrome--a myopathy of uncertain nosological position.

Poewe W, Willeit H, Sluga E, Mayr U J Neurol Neurosurg Psychiatry. 1985; 48(9):887-93.

PMID: 4045483 PMC: 1028489. DOI: 10.1136/jnnp.48.9.887.

Rigid spine syndrome associated with tent-like configuration of the thoracic cage, cerebral lesion and delayed sexual maturation in three patients.

JUSIC A J Neurol. 1985; 232(1):32-7.

PMID: 3998773 DOI: 10.1007/BF00314038.

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases.

Bertini E, Marini R, Sabetta G, Palmieri G, Spagnoli L, Vaccario M J Neurol. 1986; 233(4):248-53.

PMID: 3746364 DOI: 10.1007/BF00314029.

References

Seay A, ZITER F, PETAJAN J . Rigid spine syndrome. A type I fiber myopathy. Arch Neurol. 1977; 34(2):119-22. DOI: 10.1001/archneur.1977.00500140073016. View

ROTTHAUWE H, Mortier W, Beyer H . [New type of recessive X-linked muscular dystrophy: scapulo-humeral-distal muscular dystrophy with early contractures and cardiac arrhythmias]. Humangenetik. 1972; 16(3):181-200. DOI: 10.1007/BF00273464. View

Dubowitz V . Recent advances in neuromuscular disorders. Rheumatol Phys Med. 1971; 11(3):126-30 passim. DOI: 10.1093/rheumatology/11.3.126. View