Spastic paraplegia 4

Title

Other Names:

SPG4; Autosomal dominant spastic paraplegia 4; Familial spastic paraplegia autosomal dominant 2; SPG4; Autosomal dominant spastic paraplegia 4; Familial spastic paraplegia autosomal dominant 2; FSP2 See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. SPG4 is caused by mutations in the SPAST gene.^[1]^[2] Severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives.^[3] Medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing contractures (fixed tightening of muscles).^[1]^[2]

Last updated: 5/27/2016

Symptoms Symptoms

Signs and symptoms of SPG4 usually become apparent in young adulthood; although symptoms may start as early as one year of age and as late as 76 years. Characteristic symptoms include stiff and rigid muscles (spasticity) and weakness in both of the legs and the lower portion of the body. Additional symptoms are different for every affected individual. Other symptoms may include:^[2]^[1]

Decreased ability to sense vibrations in the ankles
Exaggerated reflexes (hyperreflexia)
Ankle spasms
High arches in the feet (pes cavus)
Reduced bladder control
Ataxia (lack of muscle control)
Seizures

Some individuals may also experience a mild decline in cognitive function. This decline does not typically affect daily functioning.^[3]

Last updated: 5/27/2016

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
30%-79% of people have these symptoms
Ankle clonus	Abnormal rhythmic movements of ankle	0011448
Babinski sign		0003487
Brisk reflexes		0001348
Functional motor deficit		0004302
Impaired vibration sensation at ankles	Decreased vibration sense at ankles Decreased vibration sense in feet [ more ]	0006938
Leg muscle stiffness		0008969
Lower limb muscle weakness	Lower extremity weakness Lower limb weakness Muscle weakness in lower limbs [ more ]	0007340
Lower limb spasticity		0002061
Urinary urgency	Overactive bladder	0000012
5%-29% of people have these symptoms
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Distal amyotrophy	Distal muscle wasting	0003693
Dysarthria	Difficulty articulating speech	0001260
Hyperreflexia in upper limbs		0007350
Pes cavus	High-arched foot	0001761
Urinary bladder sphincter dysfunction		0002839
1%-4% of people have these symptoms
Ataxia		0001251
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Seizure		0001250
Percent of people who have these symptoms is not available through HPO
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Agitation		0000713
Apathy	Lack of feeling, emotion, interest	0000741
Autosomal dominant inheritance		0000006
Degeneration of the lateral corticospinal tracts		0002314
Dementia	Dementia, progressive Progressive dementia [ more ]	0000726
Depressivity	Depression	0000716
Disinhibition		0000734
Genetic anticipation		0003743
Hyperreflexia	Increased reflexes	0001347
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
Insidious onset	Gradual onset	0003587
Low back pain		0003419
Memory impairment	Forgetfulness Memory loss Memory problems Poor memory [ more ]	0002354
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Paraplegia	Leg paralysis	0010550
Progressive	Worsens with time	0003676
Spastic gait	Spastic walk	0002064
Spastic paraplegia		0001258
Urinary incontinence	Loss of bladder control	0000020
Variable expressivity		0003828

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

Last updated: 2/1/2021

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

Inheritance Inheritance

SPG4 is inherited in an autosomal dominant manner.^[2] This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated: 5/27/2016

Treatment Treatment

Care for SPG4 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:^[3]

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

Last updated: 5/27/2016

Prognosis Prognosis

The severity of symptoms in SPG4 generally worsen over time; however, some individuals may have mild symptoms throughout their lives. Approximately 17% of individuals eventually use a wheelchair, while approximately 20% use assistance (such as a walker) to walk.^[3]

Last updated: 5/27/2016

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 MedlinePlus Genetics.

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

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 4. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The Spastic Paraplegia Foundation, a nonprofit organization supporting spastic paraplegia, offers information on Spastic paraplegia 4

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 4. 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.

Have a question? Contact a GARD Information Specialist.

References References

Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2017; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
Spastic paraplegia 4. Genetics Home Reference. January 2008; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4. Accessed 5/27/2016.
Dürr A, Tallaksen C, Depienne C. Spastic Paraplegia 4. GeneReveiws. Aug 16 2012; https://www.ncbi.nlm.nih.gov/books/NBK1160.

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