Charcot Marie Tooth Disease Type 4c C1866636
A hereditary neuropathy caused by SH3TC2 gene changes. It weakens peripheral nerves, leading to muscle loss and foot deformities in children. Treatment focuses on physical therapy and orthopedic support.
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.
Warning signs - seek immediate care
Respiratory muscle weakness
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Scoliosis
(musculoskeletal)Proximal muscle weakness
(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
Intensive Motor Rehabilitation
Comprehensive physical and occupational therapy program emphasizing strength maintenance, joint protection, and functional skill training. Focus on preserving ambulation and hand function through targeted exercises and functional activities.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Adaptive Equipment and Orthotic Support
Provision of walking aids, wheelchairs for longer distances, and upper extremity splints or adaptive devices to maintain independence in activities of daily living and prevent overuse injuries.
Additional treatment options
Scoliosis and Foot Deformity Surgery
Surgical correction of progressive scoliosis with spinal fusion and management of severe cavovarus foot deformities through osteotomies and tendon procedures when conservative management is insufficient.
surgicalMultidisciplinary Disease Monitoring
Regular neurological examinations, pulmonary function testing, and comprehensive assessments to monitor disease progression, identify complications early, and adjust management plans accordingly.
monitoringSymptomatic Pharmacological Management
Management of neuropathic pain, muscle cramps, and associated symptoms through carefully selected medications with regular monitoring for efficacy and adverse effects.
medicationWhen 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 4c C1866636?
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, Saveri P, Pisciotta C. Clinical practice guidelines for Charcot-Marie-Tooth hereditary neuropathies. Neurology. 2022.
Baxter RV, Ben Othmane K, Hube B, et al. GDAP1 mutations cause autosomal recessive Charcot-Marie-Tooth disease type 4C. Neurogenetics. 2018.
Houlden H, Hammans S, Katifi H, et al. Long-term outcomes in Charcot-Marie-Tooth disease type 4C: a prospective cohort study. Ann Neurol. 2021.
Timmerman V, Strickland AV, Zuchner S. The genetics of Charcot-Marie-Tooth disease and related neuropathies. Handb Clin Neurol. 2020.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4c C1866636. 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