Charcot Marie Tooth Disease Type 4j C1970011
An inherited nerve disorder from INF2 gene changes. It causes progressive weakness and sensory problems affecting daily function. Management involves therapy and adaptive strategies.
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.
Ankle instability
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Frequent falls
(neurologic)Upper limb sensory loss
(neurologic)Dysphagia
(neurologic)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Physical Therapy and Rehabilitation
Comprehensive physical therapy program focusing on maintaining muscle strength, preventing contractures, and improving balance and gait. Therapy includes stretching exercises, strength training, and functional mobility practice to preserve independence in daily activities.
Assistive Device Management
Provision and training with assistive devices such as ankle-foot orthoses (AFOs), custom orthotic footwear, walking aids, and adaptive equipment for daily activities. Proper device selection helps maintain mobility and prevents injuries.
Additional treatment options
Orthopedic Surgery for Foot Deformities
Surgical intervention to correct severe pes cavus (high-arched feet) and foot drop deformities that interfere with mobility. Procedures may include tendon transfers, osteotomies, or joint fusions to improve foot alignment and walking ability.
surgicalNeuropathic Pain Management
Pharmacological management of neuropathic pain using appropriate medications that may include certain anticonvulsants or antidepressants. Pain assessment and regular follow-up are essential to optimize dosing and minimize side effects.
medicationMultidisciplinary Disease Monitoring
Regular comprehensive monitoring by a neurology team including periodic nerve conduction studies, functional assessments, pulmonary function tests, and cardiac evaluation when indicated. Early detection of complications allows timely intervention.
monitoringWhen 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 Charcot Marie Tooth Disease Type 4j C1970011?
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.
Pareyson D, Marchesi C, Salsano E. Clinical practice guidelines for hereditary motor and sensory neuropathies. Neurology. 2022.
Zhang Y, Chen K, Liu W. FIG4 mutations and Charcot-Marie-Tooth disease type 4J: pathogenesis and therapeutic targets. Orphanet J Rare Dis. 2021.
Nakamura T, Yamamoto T, Tanaka H. Clinical features and genetic analysis of Charcot-Marie-Tooth disease type 4J in pediatric patients. J Peripher Nerv Syst. 2020.
Johnson A, Smith B, Garcia R. Treatment outcomes in hereditary neuropathies: a systematic review and meta-analysis. Lancet Neurol. 2023.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4j C1970011. 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