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Disease Profile

Spastic paraplegia 11

Prevalence
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.

Unknown

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 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]

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]

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 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

Treatment

Care for SPG11 is usually managed by a team including a primary care physicianneurologist, genetics professional (geneticist and/or genetic counselor), physical therapistsocial 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]

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

    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

        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

          1. 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.
          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; https://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.

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