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Disease Profile
Chiari malformation type 1
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.
#N/A
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Chiari type I malformation; Chiari malformation type I; Arnold Chiari malformation type I;
Categories
Nervous System Diseases
Summary
Chiari malformation type 1 is a structural abnormality of the cerebellum, the part of the brain that controls balance, and the skull. The malformation occurs when the lower part of the cerebellum extends below the foramen magnum (the large hole at the base of the skull which allows passage of the spinal cord), without involving the brainstem. Normally, only the spinal cord passes through the foramen magnum. Type 1 is the most common type of Chiari malformation and may not cause any symptoms.[1] It is usually first noticed in adolescence or adulthood, often by accident during an examination for another condition. Symptoms, when present, may include headache, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, dizziness, difficulty swallowing, and vision and speech problems.[1][2][3] Depending on the symptoms present and severity, some individuals may not require treatment while others may require pain medications or surgery.[1][4]
Symptoms
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
|
---|---|---|
100% of people have these symptoms | ||
Arnold-Chiari type I malformation | 0007099 | |
80%-99% of people have these symptoms | ||
Neck pain | 0030833 | |
Recurrent paroxysmal headache | 0002331 | |
Small posterior fossa | 0040010 | |
30%-79% of people have these symptoms | ||
Abnormality of the clivus | 0010558 | |
Abnormality of the eleventh cranial nerve | 0010825 | |
Abnormality of the twelfth cranial nerve | 0010826 | |
Abnormality of the vestibulocochlear nerve | 0009591 | |
Anteriorly placed odontoid process | 0004608 | |
Areflexia of upper limbs | 0012046 | |
Cervical C2/C3 vertebral fusion | 0004602 | |
Cranial nerve compression | 0001293 | |
Cranial nerve paralysis | 0006824 | |
Distal peripheral sensory neuropathy | 0007067 | |
Dysesthesia | 0012534 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Lower limb hyperreflexia |
Overactive lower leg reflex
|
0002395 |
Myelopathy | 0002196 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Progressive cerebellar ataxia | 0002073 | |
0002650 | ||
Sensory impairment | 0003474 | |
Stiff neck |
Neck stiffness
|
0025258 |
Syringomyelia |
Fluid-filled cyst in spinal cord
|
0003396 |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
Vertigo |
Dizzy spell
|
0002321 |
Vocal cord paralysis |
Inability to move vocal cords
|
0001605 |
5%-29% of people have these symptoms | ||
Abnormality of the musculature of the lower limbs | 0001437 | |
Adult onset sensorineural hearing impairment | 0008615 | |
Babinski sign | 0003487 | |
Basilar impression | 0005758 | |
Basilar invagination | 0012366 | |
Brain stem compression | 0002512 | |
Central sleep apnea | 0010536 | |
Diplopia |
Double vision
|
0000651 |
Fatigable weakness of swallowing muscles | 0030195 | |
Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ] |
0000613 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Difficulty articulating speech
|
0001260 | |
Headache |
Headaches
|
0002315 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hyperacusis | 0010780 | |
Limb muscle weakness |
Limb weakness
|
0003690 |
Lower limb |
0002061 | |
Paresthesia |
Pins and needles feeling
Tingling
[ more ] |
0003401 |
Small flat posterior fossa | 0005759 | |
Unsteady gait |
Unsteady walk
|
0002317 |
Cause
Less frequently, Chiari malformation type 1 is acquired after birth. Causes of acquired Chiari malformation type 1 involve the excessive draining of spinal fluid from the lumbar or thoracic areas of the spine as a result of injury, exposure to harmful substances, or infection.[5] Click here to view a diagram of the spine.
Treatment
People with more severe symptoms may need surgery.[4] Surgery is the only treatment available to correct functional disturbances or stop the progression of damage to the
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
-
American Syringomyelia & Chiari Alliance Project (ASAP)
PO Box 1586
Longview, TX 75606-1586
Toll-free: 1-800-272-7282
Telephone: +1-903-236-7079
Fax: +1-903-757-7456
E-mail: info@ASAP.org
Website: https://asap.org/ -
Bobby Jones Chiari & Syringomyelia Foundation (Bobby Jones CSF)
c/o Dorothy Poppe
29 Crest Loop
Staten Island, NY 10312
Telephone: +1-718-966-2593
Fax: +1-718-966-2593 (please call first)
E-mail: dpoppe@bobbyjonescsf.org
Website: https://bobbyjonescsf.org/ -
Worldwide Syringomyelia & Chiari Task Force Inc.
PO Box 491975
Lawrenceville, GA 30049
Telephone: +1-914-510-CURE (2873)
E-mail: wstfcure@wstfcure.org
Website: https://www.wstfcure.org
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
- The Bobby Jones Chiari & Syringomyelia Foundation offers information on Chiari malformation type 1
- 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.
- 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 Chiari malformation type 1. Click on the link to view a sample search on this topic.
References
- Chiari Malformation Fact Sheet. NINDS. 2016; https://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm#194173087.
- Questions about Chiari. Conquerchiari.org. https://conquerchiari.org/education/chiari-faqs.html.
- Chiari Malformation Symptoms and Cause. Mayo Clinic. 2017; https://www.mayoclinic.org/diseases-conditions/chiari-malformation/symptoms-causes/dxc-20249662.
- Pakzaban P. Chiari Malformation. Medscape Reference. 2016; https://emedicine.medscape.com/article/1483583-overview.
- Chiari Malformation Fact Sheet. National Institute of Neurological Disorders and Stroke Web site. https://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm.
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