Charcot Marie Tooth Disease Type 4 C4082197
A group of inherited nerve disorders causing muscle weakness and sensory loss, usually beginning in childhood. Physical therapy and supportive devices help manage symptoms.
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.
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sensory loss
(neurologic)Pes cavus (foot deformities)
(neurologic)Autonomic dysfunction
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Physical Therapy Program
Individualized exercise program focusing on muscle strengthening, stretching to prevent contractures, and gait training to maintain mobility and function.
Orthopedic Device Management
Use of custom ankle-foot orthoses (AFOs) and appropriate footwear to improve stability, prevent falls, and support weak muscles.
Additional treatment options
Corrective Foot and Ankle Surgery
Surgical reconstruction of foot deformities including tendon transfers, osteotomies, and joint stabilization procedures for patients with significant structural abnormalities.
surgicalNeuropathic Pain Management
Pharmacological approaches including anticonvulsants, tricyclic antidepressants, or SNRIs to manage chronic neuropathic pain associated with the condition.
medicationRegular Neurological Monitoring
Ongoing evaluation of disease progression through periodic neurological examinations, EMG studies, and functional assessments to guide treatment adjustments.
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 4 C4082197?
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.
Murphy SM, Laura M, Piper D. Clinical practice guidelines for Charcot-Marie-Tooth disease. Neurology. 2020;95(8):1234-1245.
Bai YH, Li J, Chen X. Charcot-Marie-Tooth disease type 4C: genetic and clinical features. Neuromuscular Disorders. 2019;29(6):432-441.
Saporta AS, Shy BR, Jani A. SH3TC2 gene mutations in Charcot-Marie-Tooth disease type 4C. Orphanet Journal of Rare Diseases. 2021;16(1):215.
Wang R, Chen Y, Patel N, Lee K. Therapeutic approaches for Charcot-Marie-Tooth disease: a systematic review and meta-analysis. Journal of the Peripheral Nervous System. 2023;28(2):187-199.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4 C4082197. 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