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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the corpus callosum	Very frequent (present in 80%-99% of cases)
Ataxia	Very frequent (present in 80%-99% of cases)
Cerebral cortical atrophy	Very frequent (present in 80%-99% of cases)
Dysarthria	Very frequent (present in 80%-99% of cases)
Gait disturbance	Very frequent (present in 80%-99% of cases)
Intellectual disability	Very frequent (present in 80%-99% of cases)
Mental deterioration	Very frequent (present in 80%-99% of cases)
Nystagmus	Very frequent (present in 80%-99% of cases)
Saccadic smooth pursuit	Very frequent (present in 80%-99% of cases)
Seizures	Very frequent (present in 80%-99% of cases)
Spastic paraplegia	Very frequent (present in 80%-99% of cases)
Ventriculomegaly	Very frequent (present in 80%-99% of cases)
Hyperreflexia	Occasional (present in 5%-29% of cases)
Peripheral neuropathy	Occasional (present in 5%-29% of cases)
Abnormality of the periventricular white matter	-
Adult onset	-
Agenesis of corpus callosum	-
Ankle clonus	-
Autosomal recessive inheritance	-
Babinski sign	-
Childhood onset	-
Decreased number of peripheral myelinated nerve fibers	-
Degeneration of the lateral corticospinal tracts	-
Distal peripheral sensory neuropathy	-
Dysphagia	-
Gaze-evoked nystagmus	-
Hypoplasia of the corpus callosum	-
Impaired vibration sensation in the lower limbs	-
Knee clonus	-
Lower limb muscle weakness	-
Lower limb spasticity	-
Macular degeneration	-
Motor polyneuropathy	-
Obesity	-
Pes cavus	-
Progressive	-
Retinal degeneration	-
Sensory neuropathy	-
Spastic gait	-
Specific learning disability	-
Thenar muscle atrophy	-
Tip-toe gait	-
Urinary bladder sphincter dysfunction	-
Urinary incontinence	-
Urinary urgency	-
Visual impairment	-

Last updated: 5/8/2017

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

Management Guidelines

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.

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

Do you have updated information on this condition? Let us know.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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
Telephone: 0845 644 0606 or 020 7582 1444
E-mail: helpline@ataxia.org.uk
Website: http://www.ataxia.org.uk
Spastic Paraplegia Foundation
1605 Goularte Place
Fremont, CA 94539-7241
Telephone: 877-773-4483
Fax: 877-773-4483
E-mail: information@sp-foundation.org , davis77@gmail.com
Website: http://www.sp-foundation.org
Synapse: A HSP/PLS Newsletter
E-mail: synapsePLS@comcast.net

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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is this exactly and how does it effect someone? See answer

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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.