Charcot Marie Tooth Disease Type 4b2 C1858278
A genetic nerve disease causing muscle weakness and sensory loss. May also involve facial nerve issues. Management focuses on physical therapy and rehabilitation.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pes cavus (high-arched feet)
(musculoskeletal)Distal sensory loss
(neurologic)Scoliosis
(musculoskeletal)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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor Function Preservation Therapy
Specialized exercise program designed to maintain motor function, prevent contractures, and preserve hand dexterity for activities of daily living.
Energy Conservation Techniques
Training in joint protection, pacing strategies, and use of adaptive equipment to manage fatigue and preserve function throughout the day.
Additional treatment options
Advanced Orthopedic Reconstruction
Complex surgical reconstruction including multi-level foot surgery, tendon transfers, and stabilization procedures for severe deformities not controlled by conservative measures.
surgicalOccupational Therapy Intervention
Specialized OT focusing on hand function, fine motor skills, and adaptive techniques for self-care, work, and leisure activities.
complementarySpecialized CMT Monitoring Protocol
Comprehensive annual evaluations including detailed neurological examination, functional outcome measures, and imaging as indicated for joint integrity assessment.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Charcot Marie Tooth Disease Type 4b2 C1858278?
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.
Pareyson D, Marchesi C, Salsano E. Clinical practice guidelines for Charcot-Marie-Tooth disease. Neurology. 2022.
Sevilla T, Sivera R, Martinez-Rubio D, Lupo V, Chumakov MJ, Millan JM, et al. GDAP1 mutations in Charcot-Marie-Tooth disease type 4. Neuromuscular Disorders. 2021.
Pandraud A, Houldworth H, Laurá M, Pipis M, Liu YT, Polke JM, et al. Clinical and electrophysiological features of CMT4B2 patients with GDAP1 mutations. Brain. 2020.
Zimon M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, et al. A reassessment of recessive Charcot-Marie-Tooth disease classification. Journal of Peripheral Nervous System. 2019.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4b2 C1858278. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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