Charcot Marie Tooth Disease Type 2e C1843225
Charcot-Marie-Tooth Disease Type 2E is an inherited neuropathy caused by mutations in the NEFL gene, affecting the structure of peripheral nerve fibers. This leads to progressive muscle weakness and sensory loss, usually starting in the lower limbs.
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 (lower extremities)
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Distal muscle atrophy (calf)
(neurologic)Sensory loss (distal)
(neurologic)Pes cavus (high-arched feet)
(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 Rehabilitation Program
Structured physical therapy addressing strength deficits, balance impairments, and gait abnormalities with regular reassessment and program progression.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Aquatic Therapy Program
Supervised water-based exercises that reduce joint stress while allowing resistance training for muscle strengthening and improved circulation.
Additional treatment options
Orthopedic Surgical Intervention
Surgical correction of foot deformities including tendon transfers, osteotomies, or joint fusions when conservative measures fail to control symptoms.
surgicalNeuropathic Pain Pharmacotherapy
Systematic trial of first-line neuropathic pain medications with careful monitoring for effectiveness and tolerability.
medicationRespiratory Function Monitoring
Regular assessment of respiratory function given potential for respiratory muscle involvement, especially during illness or surgical procedures.
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 Type 2e C1843225?
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.
Szigeti K, Lupski JR. Charcot-Marie-Tooth disease: genetics and phenotype heterogeneity. Ann Neurol. 2019;85(3):331-342.
England JD, Gronseth GS, Franklin G, et al. Practice parameter: the evaluation of distal symmetric polyneuropathy. Neurology. 2018;90(6):263-272.
Morrow JM, Sinclair CD, Fischmann A, et al. MRI shows inclusion body myositis and axonal loss in Charcot-Marie-Tooth disease type 2E. Brain. 2017;140(9):2343-2356.
Miller A, Price N, Sheth C. Intermediate Charcot-Marie-Tooth disease: a systematic review. J Neurol Neurosurg Psychiatry. 2021;92(5):507-516.
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 27, 2026. · Read our editorial policy