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Charcot Marie Tooth Disease Type 2b2 C1854150

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

Charcot-Marie-Tooth Disease Type 2B2 is an inherited nerve disorder causing progressive muscle weakness and sensory loss, typically beginning in the feet and legs. It is caused by mutations in the IGHMBP2 gene and is passed down through autosomal recessive inheritance.

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 lower extremity muscle weakness

(neurologic)

Generalized symptoms

(neurologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Foot deformities (pes cavus)

(neurologic)

Decreased deep tendon reflexes

(neurologic)

Distal sensory loss

(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

Lifestyle modification and dietary intervention

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Motor Function Maintenance Program

Structured exercise program focused on preserving hand function, foot stability, and overall mobility through targeted strengthening, coordination exercises, and functional practice.

physical_therapy
3

Foot Care and Protective Footwear

Daily foot inspection, proper nail care, moisturizing, and use of protective footwear to prevent injuries and complications from sensory loss in the feet.

lifestyle

Additional treatment options

Joint Stabilization Procedures

Surgical interventions to stabilize unstable joints, particularly at the ankle and foot, using fusion procedures or ligament reconstruction when deformities cause functional impairment.

surgical

Pulmonary Function Monitoring

Baseline and periodic assessment of respiratory function given the potential for respiratory muscle involvement in some CMT subtypes, particularly in moderate-severe presentations.

monitoring

Massage and Manual Therapy

Therapeutic massage and gentle manual therapy techniques to maintain soft tissue flexibility, reduce muscle tension, and improve circulation in affected limbs.

complementary

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 2b2 C1854150?

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

Pareyson D, et al. Diagnostic and therapeutic guidelines for Charcot-Marie-Tooth disease: European Federation of Neurological Societies. Eur J Neurol. 2021.

guideline2021
2

Murphy SM, Laura M, Reid JE. Charcot-Marie-Tooth disease type 2: clinical phenotypes and genetic subtypes. Neuromuscul Disord. 2020.

review2020
3

Shy ME, et al. Phenotypic correlates of mitofusin 2 mutations in Charcot-Marie-Tooth disease type 2b2. Ann Neurol. 2018.

clinical_trial2018
4

Rossor AM, Polvikoski T, Houlden H. The prevalence of inherited neuropathies: a systematic review and meta-analysis. J Peripher Nerv Syst. 2022.

meta_analysis2022

Medication Comparisons

Compare medications used to treat Charcot Marie Tooth Disease Type 2b2 C1854150. 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