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Disease Profile
Spastic paraplegia 11
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
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)
SPG11; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Autosomal recessive spastic paraplegia type 11;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Spastic paraplegia 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include
Symptoms
-
Spasticity (progressive muscle stiffness) - Paraplegia(eventual paralysis of the lower limbs)
- Numbness, tingling, or pain in the arms and legs
- Disturbance in the nerves used for muscle movement
-
Intellectual disability - Exaggerated reflexes of the lower limbs
- Speech difficulties (
dysarthria ) - Reduced bladder control
- Muscle wasting
Less common features, include:[4]
- Difficulty swallowing (
dysphagia ) - High-arched feet
Scoliosis - Involuntary movements of the eyes
Age at time of symptom onset varies from infancy to early adulthood, with onset in infancy to adolescence being most common. Learning disability may begin in childhood. Most people experience a decline in intellectual ability and an increase in muscle weakness and nerve abnormalities over time. As the condition progresses, some people require wheelchair assistance (often 10 to 20 years after symptom onset).[4][2]
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 | ||
| Aplasia/Hypoplasia of the |
0007370 | |
| 0001251 | ||
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Dysarthria |
Difficulty articulating speech
|
0001260 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 |
| Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
| Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Saccadic smooth pursuit | 0001152 | |
| 0001250 | ||
| Spastic paraplegia | 0001258 | |
| Ventriculomegaly | 0002119 | |
| 5%-29% of people have these symptoms | ||
| Hyperreflexia |
Increased reflexes
|
0001347 |
| 0009830 | ||
| Reduced tendon reflexes | 0001315 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the periventricular white matter | 0002518 | |
| Adult onset |
Symptoms begin in adulthood
|
0003581 |
| Agenesis of corpus callosum | 0001274 | |
| Ankle clonus |
Abnormal rhythmic movements of ankle
|
0011448 |
| 0000007 | ||
| Babinski sign | 0003487 | |
| Childhood onset |
Symptoms begin in childhood
|
0011463 |
| Decreased number of peripheral myelinated nerve fibers | 0003380 | |
| Degeneration of the lateral corticospinal tracts | 0002314 | |
| Distal peripheral sensory neuropathy | 0007067 | |
| Dysphagia |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 |
| Gaze-evoked nystagmus | 0000640 | |
| Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
| 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 |
| Knee clonus | 0011449 | |
| Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
| Lower limb spasticity | 0002061 | |
| Macular degeneration | 0000608 | |
| Motor polyneuropathy | 0007178 | |
| Obesity |
Having too much body fat
|
0001513 |
| Pes cavus |
High-arched foot
|
0001761 |
| Progressive |
Worsens with time
|
0003676 |
| Sensory neuropathy |
Damage to nerves that sense feeling
|
0000763 |
| Spastic gait |
Spastic walk
|
0002064 |
| Specific learning disability | 0001328 | |
| Thenar muscle atrophy | 0003393 | |
| Tip-toe gait |
Walking on tiptoes
|
0030051 |
| Urinary bladder sphincter dysfunction | 0002839 | |
| Urinary incontinence |
Loss of bladder control
|
0000020 |
| Urinary urgency |
Overactive bladder
|
0000012 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
Treatment
- Medications for leg
spasticity (antispastic drugs) - Medications to assist in bladder control (anticholinergic antispasmodic drugs)
- Regular physician therapy
- Botulinum toxin and intrathecal baclofen for severe spasticity
Regular outpatient clinic evaluations are recommended to adjust medications and
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
-
Ataxia UK
12 Broadbent Close
London, N6 5JW United Kingdom
Toll-free: 0845 644 0606 (Helpline)
Telephone: 020 7582 1444
E-mail: [email protected]
Website: https://www.ataxia.org.uk/ -
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Spastic paraplegia 11. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on hereditary spastic paraplegia in general. To view the information page click on the link above.
- The National Institute of Neurological Disorders and Stroke offers information on hereditary spastic paraplegia. Click on the link above to view the information page.
- The Univeristy of Michigan's Fink Laboratory Web site offers further information on hereditary spastic paraplegia. Click on the link above to view the information page.
- The Washington University, St. Louis Neuromuscular Disease Center provides an outline on spastic paraplegia 11. Click on the link above to view the information page.
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 Spastic paraplegia 11. Click on the link to view a sample search on this topic.
References
- Spastic paraplegia 11, autosomal recessive SPG11. Online Mendelian Inheritance in Man. 2010; https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604360. Accessed 4/16/2010.
- Stevanin G, Durr A, Brice A. Spastic paraplegia 11. GeneReviews. January 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1210/.
- Martha A. Nance. Hereditary Spastic Paraplegia. NORD. 2013; https://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
- Spastic paraplegia type 11. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11. Accessed 5/31/2016.
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