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Disease Profile
Spastic paraplegia 5A
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
-
ICD-10
G11.4
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)
SPG5A; Autosomal recessive spastic paraplegia; Spastic paraplegia type 5A
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 100986
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 | ||
Babinski sign | 0003487 | |
Impaired vibratory sensation |
Decreased vibration sense
Decreased vibratory sense
Diminished vibratory sense
Impaired vibratory sense
[ more ] |
0002495 |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
Spastic paraplegia | 0001258 | |
30%-79% of people have these symptoms | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] |
0001317 |
Abnormality of the cerebral white matter | 0002500 | |
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] |
0000079 |
Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
Lower limb amyotrophy | 0007210 | |
Pes cavus |
High-arched foot
|
0001761 |
5%-29% of people have these symptoms | ||
Atrophy of the spinal cord |
Degeneration of the spinal cord
|
0006827 |
Cloudy lens
Clouding of the lens of the eye
[ more ] |
0000518 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
Limb |
0002070 | |
Limb dysmetria | 0002406 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Sensorineural hearing impairment | 0000407 | |
Truncal ataxia |
Instability or lack of coordination of central trunk muscles
|
0002078 |
1%-4% of people have these symptoms | ||
Difficulty articulating speech
|
0001260 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Hyperintensity of cerebral white matter on |
0030890 | |
Polyneuropathy |
Peripheral nerve disease
|
0001271 |
0002650 | ||
Upper limb amyotrophy | 0009129 | |
Upper limb muscle weakness |
Decreased arm strength
Weak arm
[ more ] |
0003484 |
Upper limb |
Uncontrollable movement in upper arms
|
0006986 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Hyperreflexia |
Increased reflexes
|
0001347 |
Impaired distal proprioception | 0006858 | |
Impaired vibration sensation in the lower limbs |
Decreased lower limb vibratory sense
Decreased vibratory sense in lower limbs
Decreased vibratory sense in the lower extremities
Decreased vibratory sense in the lower limbs
Diminished vibratory sensation in the legs
[ more ] |
0002166 |
Lower limb spasticity | 0002061 | |
Optic atrophy | 0000648 | |
Paraplegia |
Leg paralysis
|
0010550 |
Progressive |
Worsens with time
|
0003676 |
Spastic gait |
Spastic walk
|
0002064 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
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
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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
-
Spastic Paraplegia Foundation (SPF)
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 1-877-773-4483
Fax: 1-877-773-4483
E-mail: [email protected]
Website: https://sp-foundation.org/
Social Networking Websites
- RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Hereditary spastic paraplegia.
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 5A. Click on the link to view a sample search on this topic.