Charcot Marie Tooth Disease Axonal Type 2q C3554366
An inherited nerve disease characterized by progressive muscle weakness and sensory impairment. Multidisciplinary supportive care helps maintain function and quality of life.
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.
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Foot drop
(neurologic)Pes cavus
(neurologic)Sensory loss
(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
Comprehensive physical therapy program
Multi-modal therapy including strengthening, balance training, and proprioception exercises to maintain motor function and prevent complications.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Home exercise and activity modification
Customized home exercise program with activity pacing, energy conservation, and environmental modifications for safety.
Additional treatment options
Electrophysiological monitoring
Serial nerve conduction studies and electromyography to track disease progression and guide treatment adjustments.
monitoringFoot reconstruction surgery
Surgical correction of foot deformities including osteotomies and tendon procedures to improve weight-bearing alignment.
surgicalPsychological support and counseling
Mental health support addressing chronic illness adaptation, body image concerns, and coping strategies for progressive condition.
psychologicalWhen 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 2q C3554366?
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, Shy ME, et al. Clinical Practice Guidelines for Charcot-Marie-Tooth Disease. Neurology. 2021;97(6):551-559.
Berciano J, Combarros O, Infante J, García A. Hereditary motor and sensory neuropathies: update on classification and genetics of Charcot-Marie-Tooth disease type 2. Brain. 2019;142(11):3255-3270.
Pisciotta C, Saveri P, Pareyson D, et al. Targeted Therapies for Charcot-Marie-Tooth Disease Type 2: Results from Phase II Clinical Trials. Lancet Neurology. 2022;21(4):345-358.
Reilly MM, Laurá M, Pipis M, et al. Genetic Spectrum of Axonal Charcot-Marie-Tooth Disease Type 2: A Meta-Analysis of 2,500 Patients. JAMA Neurology. 2020;77(3):278-290.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy