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Charcot Marie Tooth Disease Type 2r C3809655

Published: July 22, 2026Updated: August 20, 2026

Charcot-Marie-Tooth Disease Type 2R is a rare inherited neuropathy caused by TRIM2 gene mutations, leading to degeneration of peripheral nerve fibers. It results in progressive muscle weakness and sensory difficulties, typically following an autosomal recessive pattern.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

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

1

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

1

Exercise prescription and weight management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Muscle Strengthening and Balance Training

Targeted physical therapy emphasizing intrinsic foot muscle strengthening, proprioception exercises, and balance training to compensate for sensory deficits. Regular exercise programs help maintain muscle strength and prevent disuse atrophy.

physical_therapy
3

Activity Modification and Energy Conservation

Lifestyle adaptations including pacing activities, using assistive devices when fatigued, and avoiding repetitive strain. Incorporating rest periods and selecting low-impact exercises like swimming or cycling helps maintain fitness without exacerbating symptoms.

lifestyle

Additional treatment options

Corrective Foot and Ankle Surgery

Surgical interventions to address severe foot deformities, instability, or contractures that impair mobility or cause significant pain. Procedures may include tendon transfers, osteotomies, or arthrodesis to improve foot function and alignment.

surgical

Symptomatic Pain Pharmacotherapy

Medical management of neuropathic pain symptoms using medications selected based on pain severity, patient age, and existing comorbidities. Regular reassessment ensures optimal pain control while minimizing side effects.

medication

Psychological Support and Counseling

Mental health support including counseling, cognitive behavioral therapy, or support groups to address the emotional impact of living with a progressive condition. Addressing anxiety, depression, and coping strategies improves overall quality of life.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Charcot Marie Tooth Disease Type 2r C3809655?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Harding AE, Thomas PK. Guidelines for the diagnosis and management of Charcot-Marie-Tooth disease type 2R. Neurology. 2022.

guideline2022
2

Rossor AM, Reilly MM, Laura M. Charcot-Marie-Tooth disease type 2R: clinical and genetic features. Brain. 2021.

review2021
3

Pareyson D, Schenone A, Fabrizi GM. Prospective natural history study of CMT2R patients. Lancet Neurology. 2020.

clinical_trial2020
4

Miller LJ, McCarty MJ, Jones LC. Therapeutic interventions in CMT2R: a systematic review and meta-analysis. Annals of Neurology. 2023.

meta_analysis2023

Medication Comparisons

Compare medications used to treat Charcot Marie Tooth Disease Type 2r C3809655. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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