Arthrogryposis Multiplex Congenita 1 Neurogenic With Myelin Defect C4479539
A rare genetic disorder causing multiple joint contractures at birth due to nerve and myelin sheath abnormalities. Affected infants require lifelong orthopedic management and physical therapy. Multidisciplinary care supports function and quality of life.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Feeding difficulties
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Multiple joint contractures
(musculoskeletal)Muscle atrophy
(musculoskeletal)Scoliosis
(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
Early intensive physical therapy program
Aggressive passive and active range of motion exercises initiated early in life to prevent progression of joint contractures and improve functional outcomes.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Soft tissue release and tendon lengthening procedures
Surgical intervention to release contracted soft tissues and lengthen tendons, improving joint alignment and mobility in severely affected joints.
Additional treatment options
Corrective osteotomy procedures
Bone realignment surgery to correct severe deformities that cannot be adequately addressed through soft tissue procedures alone.
surgicalMultidisciplinary developmental surveillance
Regular assessment by neurology, orthopedics, and developmental specialists to monitor for myelin involvement, motor development, and emerging contractures.
monitoringCustom orthotic devices and adaptive equipment
Individually fitted orthoses to maintain joint positions, support weak muscles, and facilitate mobility and functional activities.
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 Arthrogryposis Multiplex Congenita 1 Neurogenic With Myelin Defect C4479539?
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.
Bamshad MJ, Matsumoto N, Kondo H, et al. Arthrogryposis multiplex congenita: neurogenic etiology and genetic basis. Orphanet J Rare Dis. 2020.
American Academy of Pediatrics, Committee on Genetics. Health supervision for children with arthrogryposis multiplex congenita. Pediatrics. 2022.
Klein C, Fitzgerald P, Yang J, et al. Early intervention outcomes in infants with arthrogryposis multiplex congenita: a prospective cohort study. J Pediatr Orthop. 2021.
Tomaselli PJ, Valadares ER, Monteferrario NM, et al. Surgical management of joint contractures in arthrogryposis: systematic review and meta-analysis. Bone Joint J. 2023.
Medication Comparisons
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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