Spastic paraplegia 11

Title

Other Names:

SPG11; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Autosomal recessive spastic paraplegia type 11; SPG11; Hereditary spastic paraplegia mental impairment and thin corpus callosum; Autosomal recessive spastic paraplegia type 11; Hereditary spastic paraplegia 11; Nakamura Osame syndrome; Spastic paraplegia - intellectual deficit - thin corpus callosum See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary 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 intellectual disability, speech difficulties (dysarthria), and reduced bladder control.^[1] Additionally, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence.^[2]^[3] SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion.^[4] Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.^[2]

Last updated: 5/31/2016

Symptoms Symptoms

Signs and symptoms of SPG11 may include:^[4]^[2]

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]

Last updated: 5/31/2016

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
Aplasia/Hypoplasia of the corpus callosum		0007370
Ataxia		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
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Saccadic smooth pursuit		0001152
Seizure		0001250
Spastic paraplegia		0001258
Ventriculomegaly		0002119
5%-29% of people have these symptoms
Hyperreflexia	Increased reflexes	0001347
Peripheral neuropathy		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
Autosomal recessive inheritance		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

Showing of 46 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

SPG11 is inherited in an autosomal recessive manner.^[2] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier

Last updated: 5/31/2016

Treatment Treatment

Care for SPG11 is usually managed by a team including a primary care physician, neurologist, genetics professional (geneticist and/or genetic counselor), physical therapist, social worker, and psychologist. Treatment is focused on alleviating symptoms and may include:

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 physical therapy/rehabilitation routines. Routine brain MRI and electrophysiological investigations (muscle and nerve studies) may be useful to follow the progression of the disease.^[2]

Last updated: 5/31/2016

Prognosis Prognosis

The severity of symptoms in SPG11 worsen over time, with most individuals experiencing full clinical symptoms 10 years after onset. Most individuals with SPG11 require wheelchair assistance 10-20 years after onset. Intellectual disability and cognitive decline additionally typically worsen over time and may include short-term memory impairment, constant fluctuations in emotions, reduced verbal abilities, and attention deficits.^[2]

Last updated: 5/31/2016

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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: helpline@ataxia.org.uk
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: information@sp-foundation.org
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.

Do you know of an organization? We want to hear from you.

Learn More 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.

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References References

Spastic paraplegia 11, autosomal recessive SPG11. Online Mendelian Inheritance in Man. 2010; http://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; http://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.