Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?

Spranger, Matthias; Spranger, Stephanie; Ziegan, J; Lössner, J; Meinck, H.-M.

doi:10.1111/j.1399-0004.1996.tb02632.x

Clinical Genetics

1996

DOI: 10.1111/j.1399-0004.1996.tb02632.x

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Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?

Matthias Spranger

Stephanie Spranger

J Ziegan

et al.

Abstract: A father and his two sons presented with slowly progressive muscular weakness, contractures of the spine, elbows and ankles, and cardiac conduction disturbances in the father. Clinical and histological findings are discussed in relation to the hitherto reported cases of autosomal dominant variant of the Emery‐Dreifuss syndrome and the distinction from the rigid spine syndrome.

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Cited by 4 publications

References 12 publications

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Prim�r neurogene und myogene St�rungen der K�rperhaltung

Schranz

Meinck

2004

Der Orthop�de

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Disturbance of posture may occur in a variety of neurological disorders and occasionally is the presenting or even the only sign. In the majority of cases, the head or the trunk or both are bent forward (bent spine syndrome, dropped head syndrome). A feature of these primary neurogenic or myogenic postural disturbances that is in contrast to antalgic contraction or ankylosis is that they are not fixed, but the trunk or head are easily erected by the examiner and show a characteristic sagging. Neuromuscular disorders are a frequent cause. They may be confined to the paraspinal muscles. Axial computed tomography of the spine, electromyography of the involved muscles, and muscle biopsy help to make the diagnosis. However, also central movement disorders may lead to a sagging of the head or trunk or of both due to a lessened tone of the head and trunk extensors. This is frequently seen in the various parkinsonian syndromes which may, however, occur in association with a focal myopathy of the paraspinal muscles. Occasionally, sagging of the trunk is seen as a side effect of neuropharmacologic medication. Sagging of the trunk or head should be differentiated from a pathologically increased innervation of the ventral muscles in dystonic movement disorders such as antecollis or camptocormia. Pathologic reclination of the head or trunk or both is a rare disturbance of posture. It may occur in dystonia (retrocollis) or, occasionally, as a consequence of musculotendinous contractures secondary to certain neuromuscular disorders such as the rigid spine syndrome.

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Prim�r neurogene und myogene St�rungen der K�rperhaltung

Schranz

Meinck

2004

Der Orthop�de

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Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures

Göncü

Güzel

Güler-Uysal

2003

Clinical Rheumatology

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In this report we present three patients who had complaints primarily related to joints and flexibility. Two had no specific diagnosis and one was thought to have ankylosing spondylitis. Extensive evaluation revealed Emery-Dreifuss muscular dystrophy (EDMD) in all. EDMD is a muscular dystrophy where joint contractures and spinal limitation occur before any overt muscle weakness, and the syndrome may be combined with serious cardiac pathology. We wish to call the attention of professionals involved in rheumatology and physical medicine to the existence of this syndrome, which may only present with joint contractures and spinal limitation but which may end with fatal cardiac problems if not diagnosed in time.

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Presence of emerinopathy in cases of rigid spine syndrome

Kubo

Tsukahara

Takemitsu

et al. 1998

Neuromuscular Disorders

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Three familial cases presenting with an immobile spine. Rigid spine or Emery‐Dreifuss syndrome?

Cited by 4 publications

References 12 publications

Prim�r neurogene und myogene St�rungen der K�rperhaltung

Prim�r neurogene und myogene St�rungen der K�rperhaltung

Emery-Dreifuss muscular dystrophy in the evaluation of decreased spinal mobility and joint contractures

Presence of emerinopathy in cases of rigid spine syndrome

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