National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Rigid spine syndrome


Other Names:
RSS; Rigid spine muscular dystrophy-1; RSMD1; RSS; Rigid spine muscular dystrophy-1; RSMD1; Muscular dystrophy, congenital, merosin positive with early spine rigidity; MDRS1; Minicore myopathy, severe classic form; Multicore myopathy, severe classic form; Multiminicore disease, severe classic form; Desmin-related myopathies with Mallory bodies See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 97244

Definition
Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

Visit the Orphanet disease page for more resources.
Last updated: 6/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Myopathy
Muscle tissue disease
0003198
Neck muscle weakness
Floppy neck
0000467
Respiratory insufficiency
Respiratory impairment
0002093
Scoliosis 0002650
Spinal rigidity
Reduced spine movement
0003306
30%-79% of people have these symptoms
Abnormality on pulmonary function testing 0030878
Cardiac conduction abnormality 0031546
Elbow flexion contracture
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ] 		0002987
Hamstring contractures 0003089
Hip contracture 0003273
Hyperlordosis
Prominent swayback
0003307
Hyporeflexia
Decreased reflex response
Decreased reflexes
[ more ] 		0001265
Pneumonia 0002090
Poor head control 0002421
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ] 		0003202
5%-29% of people have these symptoms
Global developmental delay 0001263
Gowers sign 0003391
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
Percent of people who have these symptoms is not available through HPO
Abnormality of the rib cage 0001547
Autosomal recessive inheritance 0000007
Axial muscle weakness 0003327
Facial palsy
Bell's palsy
0010628
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Flexion contracture
Flexed joint that cannot be straightened
0001371
Generalized amyotrophy
Diffuse skeletal muscle wasting
Generalized muscle degeneration
Muscle atrophy, generalized
[ more ] 		0003700
Generalized muscle weakness 0003324
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
High pitched voice 0001620
Increased variability in muscle fiber diameter 0003557
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Limited neck flexion
Limited neck flexibility
0005991
Motor delay 0001270
Muscular dystrophy 0003560
Muscular hypotonia
Low or weak muscle tone
0001252
Nasal speech
Nasal voice
0001611
Nocturnal hypoventilation 0002877
Nonprogressive 0003680
Reduced vital capacity 0002792
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Type 1 and type 2 muscle fiber minicore regions 0003787
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Last updated: 7/1/2020

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Rigid spine syndrome. Click on the link to view a sample search on this topic.

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