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Disease Profile
Spastic paraplegia 51
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.
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Age of onset
Infancy
ICD-10
-
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)
SPG51; Autosomal recessive spastic paraplegia 51; Spastic paraplegia 51, autosomal recessive;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
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 | ||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Progressive spastic paraplegia | 0007020 | |
30%-79% of people have these symptoms | ||
Babinski sign | 0003487 | |
Bulbous nose | 0000414 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Difficulty walking |
Difficulty in walking
|
0002355 |
Drooling |
Dribbling
|
0002307 |
0001332 | ||
Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
Global |
0001263 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Poor speech | 0002465 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Spastic |
0002464 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
5%-29% of people have these symptoms | ||
Abnormality of the periventricular white matter | 0002518 | |
Everted upper lip vermilion |
Outward turned upper lip
|
0010803 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Overweight | 0025502 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
0001250 | ||
Short philtrum | 0000322 | |
Shyness | 0100962 | |
Stereotypy |
Repetitive movements
Repetitive or self-injurious behavior
[ more ] |
0000733 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
1%-4% of people have these symptoms | ||
Acetabular dysplasia | 0008807 | |
Amblyopia |
Lazy eye
Wandering eye
[ more ] |
0000646 |
Generalized joint laxity |
Hypermobility of all joints
|
0002761 |
Genu recurvatum |
Back knee
Knee hyperextension
[ more ] |
0002816 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Symptoms present at birth
|
0003577 | |
Decreased muscle mass | 0003199 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Long nose |
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation
[ more ] |
0003189 |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Prominent antihelix | 0000395 | |
Spastic paraplegia | 0001258 | |
Spastic tetraplegia | 0002510 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Ventriculomegaly | 0002119 | |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
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
-
Cerebral Palsy Foundation
3 Columbus Circle
15th Floor
New York, NY 10019
Telephone: 212-520-1686
E-mail: [email protected]
Website: https://yourcpf.org/ -
Pedal with Pete [For Research on Cerebral Palsy]
P.O. Box 1233
Worthington, OH 43085
Telephone: +1-614-527-0202
E-mail: [email protected]
Website: https://pedal-with-pete.org/ -
Reaching for the Stars, Inc (RFTS, Inc)
3000 Old Alabama Road
Suite 119 – 300
Alpharetta, GA 30022
Toll-free: (855) 240-RFTS (7387)
E-mail: [email protected]
Website: https://reachingforthestars.org/ -
United Cerebral Palsy (UCP)
1825 K Street, NW
Suite 600
Washington, DC 20006
Toll-free: 1-800-USA-5UCP (872-5827)
Telephone: +1-202-776-0406
Fax: +1-202-776-0414
E-mail: [email protected]
Website: https://www.ucp.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
- 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 Spastic paraplegia 51. Click on the link to view a sample search on this topic.