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Spastic paraplegia 11


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
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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
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]

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
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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
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Last updated: 7/1/2020
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
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
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

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

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

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.

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

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.

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

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  1. 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.
  2. Stevanin G, Durr A, Brice A. Spastic paraplegia 11. GeneReviews. January 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1210/.
  3. Martha A. Nance. Hereditary Spastic Paraplegia. NORD. 2013; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
  4. Spastic paraplegia type 11. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11. Accessed 5/31/2016.