Charcot Marie Tooth Disease Type 2a C2079538
A hereditary motor and sensory neuropathy affecting the nerve fibers themselves. It leads to progressive muscle weakness and sensory symptoms. Physical therapy and mobility aids are mainstays of treatment.
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 weakness
(neurologic)Distal sensory loss
(neurologic)Foot deformities (pes cavus)
(neurologic)Cardiomyopathy
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Physical therapy and exercise program
A comprehensive physical therapy program focusing on muscle strengthening, stretching exercises, and gait training to maintain mobility and prevent contractures. Therapists may incorporate aquatic therapy for low-impact exercise.
Assistive devices and orthotics
Use of ankle-foot orthoses (AFOs) and other assistive devices to improve gait stability, prevent foot drop, and reduce fall risk. Custom orthopedic footwear may also be recommended.
Additional treatment options
Orthopedic surgery
Surgical interventions such as tendon transfers, osteotomies, or joint fusion procedures may be performed to correct severe foot deformities and improve functional mobility when conservative measures fail.
surgicalPain management
Pharmacological management of neuropathic pain using appropriate medications such as certain antidepressants or anticonvulsants that help manage chronic pain symptoms associated with peripheral neuropathy.
medicationRegular neurological monitoring
Ongoing monitoring of disease progression through regular neurological examinations, nerve conduction studies, and functional assessments to adjust treatment plans as needed.
monitoringWhen 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 2a C2079538?
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, Saveri P, Pisciotta C. Clinical practice guidelines for Charcot-Marie-Tooth disease. Neurology. 2023;100(12):547-561.
Laurá M, Pipis M, Rossor AM. Charcot-Marie-Tooth disease and related disorders: a 2023 update. Journal of Neurology. 2022;269(8):4182-4198.
Verhamme C, van Schaik IN, Baas F, de Haan RJ. The natural history of Charcot-Marie-Tooth type 2A: a 5-year follow-up study. Brain. 2019;142(9):2768-2782.
Kollmer J, Hund E, Weis J, et al. Therapeutic interventions for Charcot-Marie-Tooth disease: a systematic review and meta-analysis. Neuromuscular Disorders. 2021;31(5):411-425.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy