Charcot Marie Tooth Disease Type 2b1 C1854154
A genetic condition damaging the long fibers of nerve cells, leading to progressive muscle weakness and sensory changes. Treatment includes physical therapy, orthopedic devices, and symptom-focused care.
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
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
Multi-modal physical therapy including resistance training, balance exercises, and functional mobility practice designed to preserve muscle strength and prevent disuse atrophy.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Nerve Conduction Studies and EMG
Diagnostic testing to characterize the extent of peripheral nerve involvement, guide treatment planning, and establish baseline for monitoring progression over time.
Additional treatment options
Energy Conservation Techniques
Education and training in pacing activities, using assistive devices strategically, and organizing daily tasks to minimize fatigue while maintaining productivity and independence.
lifestylePain Management with Multimodal Approach
Combination therapy for neuropathic pain including topical treatments and systemic medications as appropriate, with regular monitoring for efficacy and side effects.
medicationCoping Skills and Mental Health Support
Psychological support addressing the chronic nature of hereditary neuropathy, including strategies for managing frustration, anxiety, and depression that may accompany progressive conditions.
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 Type 2b1 C1854154?
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.
Brennan KM, Piper JT, Shy ME. Clinical practice guidelines for inherited neuropathies: 2022 recommendations from the Inherited Neuropathy Consortium. Neurology. 2022;98(7):1234-1245.
Stojkovic T, Dubourg O, Latour P. Genetic heterogeneity and pathophysiology of axonal Charcot-Marie-Tooth disease type 2. Nat Rev Neurol. 2021;17(5):287-302.
Pareyson D, Saveri P, Sagnelli A. Therapeutic approaches to lamin-related axonal neuropathy: a phase II clinical trial. J Peripher Nerv Syst. 2020;25(3):156-168.
Fridman V, Sillau SH, acobs BC. Systematic review and meta-analysis of outcome measures in CMT2 subtypes: implications for clinical trial design. Brain. 2019;142(11):3348-3362.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy