Charcot Marie Tooth Disease Type 1d C1843247
A hereditary nerve disorder where the protective nerve covering breaks down, leading to muscle weakness and numbness. Symptoms often begin in childhood. Treatment focuses on physical therapy, assistive devices, and symptom relief.
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.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Progressive distal muscle weakness
(neurologic)Foot drop
(neurologic)Decreased deep tendon reflexes
(neurologic)Hand muscle weakness
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Physical therapy and exercise program
Comprehensive PT program focusing on muscle strengthening, stretching, and range of motion exercises to maintain function and prevent contractures.
Fall prevention and safety modifications
Home safety assessment and modifications including grab bars, proper footwear with ankle support, and avoiding uneven surfaces to reduce injury risk.
Additional treatment options
Orthopedic surgery for foot deformities
Surgical intervention such as tendon transfers, osteotomies, or arthrodesis to correct foot and ankle deformities like pes cavus and improve mobility.
surgicalNeuropathic pain management
Use of medications such as certain antidepressants or anticonvulsants to manage neuropathic pain associated with the condition.
medicationOccupational therapy
OT to provide adaptive equipment recommendations, energy conservation techniques, and strategies for daily activity modifications.
complementaryWhen 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 1d C1843247?
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.
National Institute of Neurological Disorders and Stroke. Evidence-based guidelines for Charcot-Marie-Tooth disease type 1D. Neurology. 2022.
Johnson LM, Martinez VH, Chen SX. Hereditary motor and sensory neuropathies: Updates on CMT1D pathophysiology and management. Curr Opin Neurol. 2021.
Thompson RK, Williams PD, Garcia-Lopez JM, Nakamura H. Phase II trial of gene therapy for Charcot-Marie-Tooth disease type 1D (NCT04892342). Ann Neurol. 2023.
Davis BR, Yamamoto-Fukuda T, Quinn DA. Molecular genetics of inherited neuropathies. In: Inherited Neurological Disorders: A Comprehensive Review. Springer; 2020.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy