Rigid spine syndrome

Common Name(s)

Rigid spine syndrome

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Rigid spine syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Rigid spine syndrome" returned 11 free, full-text research articles on human participants. First 3 results:

Response to botulinum toxin in a case of rigid spine syndrome.
 

Author(s): J Sastre-Garriga, M Tintoré, X Montabalan, J Bagó, I Ferrer

Journal: J. Neurol. Neurosurg. Psychiatr.. 2001 Oct;71(4):564-5.

 

Last Updated: 15 Oct 2001

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Rigid spine syndrome and nocturnal alveolar hypoventilation.
 

Author(s): A Kawata, M Suga, K Miyamoto, K Hirose, H Tanabe

Journal: Intern. Med.. 1993 Aug;32(8):638-40.

 

A 17-year-old Japanese woman with rigid spine syndrome (RSS) presented with respiratory failure leading to CO2 narcosis. The clinical symptoms were drowsiness, asterixis and cardiac arrhythmias. Tracheostomy and temporary ventilatory support abolished these symptoms. However, polygraphic ...

Last Updated: 18 Mar 1994

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

Author(s): L Palmucci, T Mongini, C Doriguzzi, M Maniscalco, D Schiffer

Journal: J. Neurol. Neurosurg. Psychiatr.. 1991 Jan;54(1):42-5.

 

Two sisters and a first cousin presented with rigid spine and facio-scapulo-peroneal muscle atrophy. The patients belonged to a family with two first-cousin marriages. Electromyography, muscle and nerve biopsy showed neurogenic muscle atrophy without peripheral nerve involvement. ...

Last Updated: 8 May 1991

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Rigid spine syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Rigid spine syndrome associated with cardiomyopathy: clinical and nosological considerations.
 

Author(s): Y Takase, K Yamamoto, H Nogaki, T Fukusako, F Sasabe, M Morimatsu

Journal: Jpn. J. Med.. ;29(5):555-9.

 

We report observations in a 32-year-old man with the following characteristics of rigid spine syndrome: humero-peroneal muscular atrophy and weakness; bradycardia, dilated cardiomegaly and complete cardiac conduction block; and severe fatty degeneration of the paravertebral and calf ...

Last Updated: 28 May 1991

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Congenital Muscle Disease Study of Patient and Family Reported Medical Information
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Congenital Muscular Dystrophy; Fukutin-related Protein Gene; Limb Girdle; FKRP Gene; Childhood Onset LGMD; Adult Onset LGMD; POMT1; POMT2; POMGnT1; LARGE; Alpha Dystroglycan; Dystroglycanopathy; Centronuclear; Multiminicore; Multicore; Minicore; Congenital Fiber Type Disproportion; Myotubular; Nemaline; Congenital Myopathy; Neuromuscular; Rigid Spine; Phenotype-Genotype Correlation; Cough Assisted Device; Neuromuscular Disease; Respiratory Exacerbation; Invasive Ventilation; Chest Physiotherapy; Congenital Myopathies; Genetic Mutations; Hypertrophic Cardiomyopathy; Wheelchair Use; Cataract; Opthalmoplegia; Ullrich Congenital Muscular Dystrophy; Intermediate Collagen VI Myopathy; Laminin Alpha 2 Related Congenital Muscular Dystrophy; MDC1A; Merosin Deficient Congenital Muscular Dystrophy; Congenital Muscular Dystrophy Undiagnosed; Congenital Muscular Dystrophy Merosin Positive; Walker Warburg Syndrome; Muscle Eye Brain Disease; Fukuyama; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; Laminopathy; Lamin AC; SEPN 1 Related Myopathies; Bethlem Myopathy; Dystroglycanopathies; LGMD2K; LGMD2I; LGMD2L; LGMD2N; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Disease Myopathy; Congenital Myopathy Other; Reducing Body Myopathy; Sarcotubular Myopathy; Spheroid Body Myopathy

 

Last Updated: 17 Jun 2014

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