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Disease Profile

Spastic diplegia cerebral palsy

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

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ICD-10

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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)

Cerebral palsy spastic diplegic

Categories

Nervous System Diseases

Summary

Spastic diplegia cerebral palsy is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood, and permanently affects muscle control and coordination. Affected people have increased muscle tone which leads to spasticity (stiff or tight muscles and exaggerated reflexes) in the legs. The arm muscles are generally less affected or not affected at all. Other signs and symptoms may include delayed motor or movement milestones (i.e. rolling over, sitting, standing); walking on toes; and a "scissored" gait (style of walking).[1][2] 

As with other types of cerebral palsy, spastic diplegia is usually caused by brain damage, which generally happens before, during, or shortly after birth. Babies born prematurely and with low birth weight are at a higher risk of developing cerebral palsy. The exact cause is often unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; and/or injury before, during or shortly after birth.[1][3][4] There is no cure, and treatment options vary depending on the signs and symptoms present in each person and the severity of the condition, and may include physical, occupational and speech therapy, medication and surgery.[1][5][6]

Symptoms

The symptoms and severity of spastic diplegia cerebral palsy vary significantly from person to person. It is a form of cerebral palsy, a neurological condition that usually appears in infancy or early childhood and permanently affects muscle control and coordination.[1][3]

Spastic diplegia affects the legs and arms, making them stiff and contracted (spastic). The legs are generally affected more than the arms. In fact, the upper extremities of the body are usually able to retain good range of motion and muscle tone. Yet, both upper and lower limbs can equally be affected in some cases, depending on severe the spastic diplegia is. This makes crawling and walking difficult and most often, children will walk with a wide “scissor gate.” Legs can also turn inwards and cross at the knees due to excessive muscle contractions. Other children may not be able to walk at all.[5][7]

Some children with spastic diplegia will also have some form of cognitive impairment, which can range in severity. Other symptoms of diplegic cerebral palsy include:[1][3][5][7]

  • Delayed motor or movement milestones (i.e. rolling over, sitting, standing) 
  • Walking on toes
  • Flexed knees
  • Fatigue
  • Strabismus (crossed eyes)
  • Fatigue
  • Seizures
  • Coordination and balance issues

Although symptoms may change as a person gets older, the condition does not get worse over time (progress).[1][5]

Cause

Spastic diplegia cerebral palsy occurs when the portion of the brain that controls movement is damaged or develops abnormally. This usually occurs before birth, but can happen at any time while the brain is still developing (usually before age 2). In many cases, the exact underlying cause is unknown; however, the condition has been associated with genetic abnormalities; congenital brain malformations; maternal infections or fevers; injury before, during or shortly after birth; problems with blood flow to the brain; and severe lack of oxygen to the brain.[1][4][5] 

The following medical conditions or events may increase the risk for a child to be born with or develop cerebral palsy:[1][5]

  • Premature birth
  • Low birth weight (less than 5 and a half pounds)
  • Mothers with infections or high fevers during pregnancy
  • Multiple births (twins, triplets and other multiples)
  • Rh incompatibility (blood type incompatibility between mother and child)
  • Mothers with thyroid abnormalities, intellectual disability, excess protein in the urine, or seizures
  • Breech presentation
  • Complicated labor and delivery
  • Low Apgar score
  • Newborn jaundice

Diagnosis

A diagnosis of spastic diplegia cerebral palsy is based on the presence of characteristic signs and symptoms. However, the following tests may be recommended to rule out other conditions that cause similar features.[1][5]

For more information about the diagnosis of spastic diplegia cerebral palsy and other types of cerebral palsy, please visit the following link from the National Institute of Neurological Disorders and Stroke:
https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebral-Palsy-Information-Page

Treatment

Treatment of spastic diplegia cerebral palsy varies based on the signs and symptoms present in each person and the severity of the condition. Affected people are often cared for by a team of healthcare providers who specialize in a variety of different medical fields (i.e. neurologists, rehabilitation physicians, social workers, physical therapists, etc). Orthotic devices (such as a walker, wheelchair or leg braces), physical therapy, and occupational therapy can help improve independent mobility. Certain medications may be prescribed to relax stiff, contracted, or overactive muscles. Orthopedic surgery is often recommended for severely affected people who have symptoms that make walking and moving difficult or painful.[1][3][5]

For more information on the treatment of spastic diplegia cerebral palsy and other forms of cerebral palsy, please visit the National Institute of Neurological Disorders and Stoke website.

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

    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

    • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
    • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
    • 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.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Merck Manual for health care professionals provides information on Spastic diplegia cerebral palsy.
      • 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.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Spastic diplegia cerebral palsy. Click on the link to view a sample search on this topic.

        References

        1. Cerebral Palsy: Hope Through Research. National Institute of Neurological Disorders and Stroke. 2018; https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Hope-Through-Research/Cerebral-Palsy-Hope-Through-Research.
        2. Facts About Cerebral Palsy. Centers for Disease Control and Prevention. April 18, 2018; https://www.cdc.gov/ncbddd/cp/facts.html.
        3. Cerebral Palsy. NORD. February 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/63/viewAbstract.
        4. McMichael G, Bainbridge MN, Haan E et al. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy. Mol Psychiatry. February, 2015; 20(2):176-82. https://www.ncbi.nlm.nih.gov/pubmed/25666757.
        5. Abdel-Hamid HZ. Cerebral Palsy. Medscape Reference. August, 2016; https://emedicine.medscape.com/article/1179555-overview.
        6. Spastic Cerebral Palsy. Cerebral Palsy organization. https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/.
        7. Spastic diplegia cerebral palsy. Cerebral palsy guidance. https://www.cerebralpalsyguidance.com/cerebral-palsy/types/spastic-diplegia/.
        8. Tollånes MC, Wilcox AJ, Lie RT, Moster D. Familial risk of cerebral palsy: population based cohort study. BMJ. July 2014; 349(g4294):1-8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099475/.
        9. Cerebral Palsy. MedlinePlus. 2017; https://www.nlm.nih.gov/medlineplus/ency/article/000716.htm.

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