Charcot Marie Tooth Disease Axonal Type 2p C3280797
A genetic peripheral nerve condition affecting the axons, resulting in muscle weakness and diminished sensation. Treatment focuses on physical therapy and mobility support.
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 symptoms
(neurologic)Difficulty walking
(neurologic)Lower limb weakness
(neurologic)Upper limb involvement
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Muscle strengthening and rehabilitation
Structured exercise program targeting weak muscles while protecting overstretched ones, incorporating both resistance and aerobic training.
Ankle-foot orthoses (AFOs)
Custom-fitted orthotic devices providing ankle support and improving gait mechanics to reduce fatigue and prevent injuries.
Additional treatment options
Respiratory function assessment
Regular evaluation of respiratory strength as axonal CMT can affect breathing muscles in some cases.
monitoringTendon transfer procedures
Surgical tendon transfers to improve foot and ankle function, particularly for foot drop and balance issues.
surgicalOccupational therapy support
Adaptive techniques and equipment for daily activities, workplace modifications, and energy conservation strategies.
complementaryWhen 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 2p C3280797?
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, Pipis M, et al. EFNS/PNS guideline on management of Charcot-Marie-Tooth disease. Eur J Neurol. 2021.
Bott ES, Eggermann K, Müller vom Hagen J, et al. Axonal Charcot-Marie-Tooth disease: from clinical features to molecular mechanisms. Nat Rev Neurol. 2020.
Saporta AS, Shy BR, Patzkó A, et al. Gene therapy for GARS-associated axonal neuropathy: a phase 1/2 clinical trial. J Clin Invest. 2023.
Gonzalez MA, Mersiyanova A, Huck H, et al. Genetic heterogeneity of axonal Charcot-Marie-Tooth disease type 2: focus on the 2P locus. Brain. 2018.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy