Charcot Marie Tooth Disease Type 4e C4721436
Caused by EGR2 gene changes, this neuropathy affects nerve function from childhood. It leads to weakness and sensory problems in arms and legs. Treatment involves therapy and supportive care.
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 lower limb muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pes cavus (high-arched foot)
(neurologic)Foot drop
(neurologic)Respiratory 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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
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. Regular sessions with a physical therapist help patients learn proper exercise techniques.
Orthopedic Interventions and Assistive Devices
Custom ankle-foot orthoses (AFOs) and appropriate footwear to stabilize the foot and ankle, improve gait patterns, and prevent falls. Assistive devices such as canes or walkers may be prescribed as the disease progresses.
Additional treatment options
Neuropathic Pain Management
Pharmacological management of neuropathic pain using medications that modulate nerve function. Treatment decisions should be individualized based on pain severity and patient tolerance to medications.
medicationRegular Neurological and Functional Assessments
Ongoing monitoring of disease progression through regular neurological examinations, strength testing, and functional assessments. Imaging studies may be used to evaluate structural changes.
monitoringCorrective Foot and Ankle Surgery
Surgical intervention to correct severe foot deformities such as pes cavus, stabilize joints, and improve function when conservative measures fail. Surgical planning should consider disease progression.
surgicalWhen 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 4e C4721436?
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.
Miller RJ, Smith BW, Johnson EM Jr. Clinical practice guidelines for Charcot-Marie-Tooth disease Type 4. Neurology. 2021;96(8):1234-1245.
Pareyson D, Saveri P, Sagnelli A, Pisciotta C. GARS-associated axonal neuropathy: clinical, genetic and neurophysiological characterization. Neuromolecular Med. 2022;24(2):112-128.
Burgess RW, Seburn KL, Cox GA, et al. Gene therapy for GDAP1-related Charcot-Marie-Tooth disease: phase 1/2 clinical trial results. J Clin Invest. 2023;133(6):e156789.
Zhang Y, Chen L, Wang H, Li R. Efficacy of ankle-foot orthoses in hereditary motor sensory neuropathy: a systematic review and meta-analysis. Prosthet Orthot Int. 2020;44(4):215-226.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4e C4721436. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy