Rare Nephrology News
Disease Profile
Rigid spine syndrome
Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
Infancy
ICD-10
G71.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
RSS; Rigid spine muscular dystrophy-1; RSMD1;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
Symptoms
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.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Neck muscle weakness |
Floppy neck
|
0000467 |
| Respiratory insufficiency |
Respiratory impairment
|
0002093 |
| 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 |
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 |
0001263 | |
| Gowers sign | 0003391 | |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal rib cage morphology |
Abnormality of the rib cage
|
0001547 |
| 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 |
|
Decreased body height
Small stature
[ more ] |
0004322 | |
| Type 1 and type 2 muscle fiber minicore regions | 0003787 | |
Treatment
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.
Organizations
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
-
Cure CMD Congenital Muscular Dystrophy
19401 S. Vermont Ave., Suite J100
Torrance, CA 90502
Telephone: 323-250-2399 or 424-265-0874
E-mail: info@curecmd.org
Website: https://www.curecmd.org/ -
Muscular Dystrophy Foundation Australia
36-38 Henley Beach Rd
Mile End, 5031 Australia
Toll-free: 0430-404-332
E-mail: accounts@supportmd.org.au
Website: https://mdaustralia.org.au/
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org -
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: https://www.musculardystrophyuk.org/
Learn more
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.