The Spectrum of the So-called Rigid Spine Syndrome: Nosological Considerations and Report of Three Female Cases

Overview

Journal J Neurol

Specialty Neurology

Date 1986 Aug 1

PMID 3746364

Citations 4

Authors

E Bertini

R Marini

G Sabetta

G P Palmieri

L G Spagnoli

M L Vaccario

T de Barsy

Affiliations

Soon will be listed here.

Abstract

Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atrophy. The third patient showed very peculiar morphological changes on a muscle biopsy specimen resembling a vacuolar myopathy, which is rarely described in association with the rigid spine syndrome. The importance of an adequate investigation of the rigid spine syndrome and the recognition of the presence or absence of cardiomyopathy, if there is to be correct genetic counselling, is discussed.

Citing Articles

Rigid spine syndrome: a radiologic and manometric study of the pharynx and esophagus.

Stubgen J Dysphagia. 2007; 23(2):110-5.

PMID: 17694409 DOI: 10.1007/s00455-007-9102-7.

Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.

Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C Am J Hum Genet. 1998; 62(6):1439-45.

PMID: 9585610 PMC: 1377161. DOI: 10.1086/301882.

The rigid spine syndrome in two sisters.

Vanneste J, Augustijn P, STAM F J Neurol Neurosurg Psychiatry. 1988; 51(1):131-5.

PMID: 3351513 PMC: 1032727. DOI: 10.1136/jnnp.51.1.131.

Familial autosomal recessive rigid spine syndrome with neurogenic facio-scapulo-peroneal muscle atrophy.

Palmucci L, Mongini T, Doriguzzi C, Maniscalco M, Schiffer D J Neurol Neurosurg Psychiatry. 1991; 54(1):42-5.

PMID: 2010758 PMC: 1014297. DOI: 10.1136/jnnp.54.1.42.

References

EMERY A, Dreifuss F . Unusual type of benign x-linked muscular dystrophy. J Neurol Neurosurg Psychiatry. 1966; 29(4):338-42. PMC: 1064196. DOI: 10.1136/jnnp.29.4.338. View

Cammann R, Vehreschild T, Ernst K . [A new kinship with X-chromosomal benign progressive muscular dystrophy and early contractures (Emery-Dreifuss)]. Psychiatr Neurol Med Psychol (Leipz). 1974; 26(7):431-8. View

Dubowitz V . Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med. 1973; 66(3):219-20. PMC: 1644828. View

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

Egger J, Kendall B, ERDOHAZI M, Lake B, Wilson J, Brett E . Involvement of the central nervous system in congenital muscular dystrophies. Dev Med Child Neurol. 1983; 25(1):32-42. DOI: 10.1111/j.1469-8749.1983.tb13719.x. 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

Colver A, Steer C, Godman M, Uttley W . Rigid spine syndrome and fatal cardiomyopathy. Arch Dis Child. 1981; 56(2):148-51. PMC: 1627121. DOI: 10.1136/adc.56.2.148. View

ZELLWEGER H, Afifi A, MCCORMICK W, Mergner W . Severe congenital muscular dystrophy. Am J Dis Child. 1967; 114(6):591-602. DOI: 10.1001/archpedi.1967.02090270047003. View

Serratrice G, Pouget J, Pellissier J, Gastaut J, Cros D . [Muscular disease of X-linked autosomal recessive transmission with early muscular retractions and cardiac conduction disorders]. Rev Neurol (Paris). 1982; 138(10):713-24. View

10.

Abousamra S, De Vernejoul M, Huchon G, Brunet P, RYCKEWAERT A, Marsac J . [Pleuro-pulmonary disease and rigid spine syndrome (author's transl)]. Ann Med Interne (Paris). 1981; 132(3):202-4. View

11.

Prost A, Mussini J, Audran M, Bainvel J, Mathe J, Cottin S . [Rigid spine syndrome. One case]. Rev Rhum Mal Osteoartic. 1980; 47(1):49-52. View

12.

Mawatari S, Katayama K . Scapuloperoneal muscular atrophy with cardiopathy. An X-linked recessive trait. Arch Neurol. 1973; 28(1):55-9. DOI: 10.1001/archneur.1973.00490190073010. View

13.

Goto I, Nagasaka S, Nagara H, Kuroiwa Y . Rigid spine syndrome. J Neurol Neurosurg Psychiatry. 1979; 42(3):276-9. PMC: 490733. DOI: 10.1136/jnnp.42.3.276. View

14.

Lazaro R, Fenichel G, Kilroy A . Congenital muscular dystrophy: case reports and reappraisal. Muscle Nerve. 1979; 2(5):349-55. DOI: 10.1002/mus.880020505. View

15.

Goto I, Muraoka S, Fujii N, Ohta M, Kuroiwa Y . Rigid spine syndrome: clinical and histological problems. J Neurol. 1981; 226(2):143-8. DOI: 10.1007/BF00313443. View

16.

Chakrabarti A, Pearce J . Scapuloperoneal syndrome with cardiomyopathy: report of a family with autosomal dominant inheritance and unusual features. J Neurol Neurosurg Psychiatry. 1981; 44(12):1146-52. PMC: 491236. DOI: 10.1136/jnnp.44.12.1146. View

17.

Vogel P, Goebel H, Seitz D . Rigid spine syndrome in a girl. J Neurol. 1982; 228(4):259-65. DOI: 10.1007/BF00313416. View

18.

Lossner J, Oertel G, ZIEGAN J . [Rigid spine syndrome. A rare combination mith a neuromuscular affection]. Beitr Orthop Traumatol. 1981; 28(8):429-33. View

19.

Brooke M, Carroll J, Ringel S . Congenital hypotonia revisited. Muscle Nerve. 1979; 2(2):84-100. DOI: 10.1002/mus.880020203. View

20.

Goebel H, Lenard H, Gorke W, Kunze K . Fibre type disproportion in the rigid spine syndrome. Neuropadiatrie. 1977; 8(4):467-77. DOI: 10.1055/s-0028-1091542. View