Rigid Spine Syndrome

Classification according to ICD-10
G71.2	Congenital myopathies
ICD-10 online (WHO version 2019)

The Rigid Spine Syndrome is a rare congenital disease with the main features of an increasing restriction in the flexion of the spine . This more clinically descriptive term includes both the forms of Emery Dreifuss muscular dystrophy and diseases that are counted among the congenital muscular dystrophies .

Synonyms are: RSS; english Rigid spine muscular dystrophy-1; RSMD1

The first description of the disease comes from the year 1971 by the South African pediatrician Victor Dubowitz.

The disease is currently listed as a form of congenital muscular dystrophy as SEPN1-related CMD .

distribution

The frequency and inheritance mechanism are not yet known.

root cause

Of the disease are usually mutations in SEPN1 - gene on chromosome 1 locus p36.11 based encoding selenoprotein N1, but other mutations have been described.

Clinical manifestations

Clinical criteria are:

• Onset of illness sometimes already from birth at the latest in the first 10 years of life
• Increasing flexion restriction up to S-shaped scoliosis
• often contractures of the elbow
• increasing respiratory failure

diagnosis

In the magnetic resonance imaging is circumscribed changes are in the thigh at sartorius muscle and adductor magnus . In blood serum which is creatine kinase increased, the electromyography pathological.

Differential diagnosis

The following are to be distinguished:

• Central core myopathy
• Multicore myopathy
• Myotubular myopathy
• Pompe disease

literature

• R. Koul, D. Sankhla, S. Al-Jahdhami, R. Mani, RA Rahim, S. Al-Yaarubi, H. Al-Kindy, K. Al-Thihli, A. Al-Futaisi: Rigid Spine Syndrome among Children in Oman. In: Sultan Qaboos University medical journal. Volume 15, No. 3, August 2015, pp. E364 – e369, doi: 10.18295 / squmj.2015.15.03.010 , PMID 26357557 , PMC 4554271 (free full text).
• JP Stübgen: Rigid spine syndrome: vacuolar variant multimodal evoked potentials. In: Electromyography and clinical neurophysiology. Volume 47, No. 7-8, 2007 Nov-Dec, pp. 323-328, PMID 18051625 .
• J. Lössner, G. Oertel, J. Ziegan: [Rigid spine syndrome. A rare combination with a neuromuscular affection]. In: Contributions to orthopedics and traumatology. Vol. 28, No. 8, August 1981, pp. 429-433, PMID 7305882 .

Web links

• Rare Diseases

Individual evidence

1. ↑ ^{a b} Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
2. ↑ ^{a b} Rigid Spine Syndrome. In: Orphanet (Rare Disease Database).
3. ^ V. Dubowitz: Recent advances in neuromuscular disorders. In: Rheumatology and physical medicine , Volume 11, No. 3, August 1971, pp. 126-30 passim, PMID 5572021 .
4. ↑ ^{a b c} Gene Reviews
5. ↑ Rigid Spine Syndrome.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ JB Noury, T. Maisonobe, P. Richard, V. Delague, E. Malfatti, T. Stojkovic: Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of BAG3 gene mutations even without cardiac involvement. In: Muscle & nerve. [Electronic publication before printing] February 2017, doi: 10.1002 / mus.25631 , PMID 28224639 .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !