X Linked Intellectual Disability Spastic Quadriparesis Syndrome C1839727
A severe genetic condition causing intellectual disability and muscle stiffness affecting all limbs. Primarily affects males, significantly impacting mobility.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Spastic quadriparesis
(neurologic)Intellectual disability
(neurologic)Muscle stiffness
(musculoskeletal)Joint contractures
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Spasticity management and mobility therapy
Regular physical therapy focusing on stretching, positioning, and functional exercises to manage spasticity, prevent contractures, and maintain joint mobility.
Muscle relaxant therapy
Oral or injectable muscle relaxants to reduce spasticity and improve comfort, positioning, and functional abilities.
Additional treatment options
Orthopedic intervention
Surgical procedures such as tendon lengthening or selective dorsal rhizotomy may be considered for severe spasticity affecting function and causing pain.
surgicalRespiratory and nutritional monitoring
Regular assessment of respiratory function and swallowing given quadriparesis, along with nutritional support to prevent aspiration and maintain health.
monitoringPositioning and equipment adaptations
Use of specialized seating, positioning devices, and adaptive equipment to optimize comfort, prevent pressure injuries, and maximize independence.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is X Linked Intellectual Disability Spastic Quadriparesis Syndrome C1839727?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mandel JL, Chelly J. X-linked mental retardation: from genes to cognition. Trends Genet. 2020.
Moog U, de Vries BB, Ropers HH, et al. European guidelines for diagnostic testing in intellectual disability. Eur J Hum Genet. 2022.
Raymond FL, Tarpey PS, Edkins S, et al. Mutations in JARID1C cause X-linked mental retardation. Nat Genet. 2019.
Kleefstra T, van Zelst-Stams WA, Nillesen WM, et al. Clinical and molecular characterization of X-linked intellectual disability syndromes. Clin Genet. 2021.
Medication Comparisons
Compare medications used to treat X Linked Intellectual Disability Spastic Quadriparesis Syndrome C1839727. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy