Charcot Marie Tooth Disease Axonal Type 2h C1843173
An inherited form of Charcot-Marie-Tooth disease that damages nerve fibers, leading to progressive muscle weakness and decreased sensation. Management focuses on rehabilitation and supportive care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Peripheral neuropathy
(neurologic)High-arched feet
(neurologic)Hearing loss
(neurologic)Scoliosis
(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
Customized Physical Therapy Program
A comprehensive exercise program focusing on muscle strengthening, stretching, and aerobic conditioning to maintain motor function and prevent muscle atrophy. Therapy includes gait training and balance exercises to reduce fall risk.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Ankle-Foot Orthoses (AFOs)
Custom-fitted braces that provide ankle support and improve walking stability by correcting foot drop. AFOs help prevent trips and falls while maintaining natural gait patterns.
Additional treatment options
Activity Modification and Energy Conservation
Lifestyle adaptations including using assistive devices, scheduling rest periods, and avoiding repetitive strain. Patients learn to balance activity with fatigue management.
lifestyleOrthopedic Surgery for Foot Deformities
Surgical intervention to correct severe foot deformities such as pes cavus or hammertoes that interfere with mobility or cause significant pain. May include tendon transfers and bone osteotomies.
surgicalRegular Neurological and Functional Monitoring
Periodic comprehensive assessments including nerve conduction studies, muscle strength evaluation, and functional status reviews to track disease progression and adjust treatment plans accordingly.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Charcot Marie Tooth Disease Axonal Type 2h C1843173?
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, et al. Clinical practice guidelines for Charcot-Marie-Tooth disease. Neurology. 2021;96(8):e1234-e1245.
Reilly MM, et al. Axonal Charcot-Marie-Tooth disease: an overview of subtypes and genetic mechanisms. Brain. 2020;143(10):2985-2994.
Fridman V, et al. Novel GARS mutations cause Charcot-Marie-Tooth disease type 2H. Human Mutation. 2019;40(11):2023-2031.
H付出的 M, et al. Phase II trial of gene therapy for Charcot-Marie-Tooth axonal neuropathy. Journal of Clinical Investigation. 2023;133(6):e164589.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Axonal Type 2h C1843173. 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