Charcot Marie Tooth Disease Type 2i C3888087
Charcot-Marie-Tooth Disease Type 2I is a genetic peripheral nerve disorder linked to JPH1 gene mutations, resulting in progressive muscle weakness and sensory impairment. It follows an autosomal dominant inheritance pattern and varies in age of onset.
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 muscle weakness (lower extremities)
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Distal muscle atrophy (calf)
(neurologic)Sensory loss (distal)
(neurologic)Pes cavus (high-arched feet)
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Ankle-Foot Orthosis Prescription
Custom-molded AFOs to manage foot drop, improve walking efficiency, and provide ankle stability during daily activities.
Additional treatment options
Home Exercise and Self-Management Program
Structured home exercise program with education on proper technique, progression guidelines, and strategies for integrating exercise into daily routine.
lifestylePsychological Support and Counseling
Access to counseling services to address the emotional impact of living with a progressive condition, including coping strategies and support resources.
psychologicalCorrective Foot and Ankle Surgery
Surgical procedures including tendon lengthening, osteotomies, or arthrodesis for severe deformities not controlled with conservative measures.
surgicalWhen 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 2i C3888087?
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, et al. Clinical practice guidelines for Charcot-Marie-Tooth disease type 2I. Neurology. 2022.
Shy ME, Murphy GJ. Update on Charcot-Marie-Tooth disease type 2I: genetics and clinical management. Curr Opin Neurol. 2021.
Zhu D, et al. Efficacy of gene therapy approaches for CMT2I patients with MFND2 mutations. Ann Neurol. 2023.
Baptista R, Santos SC. Systematic review and meta-analysis of rehabilitation outcomes in Charcot-Marie-Tooth type 2I. J Peripher Nerv Syst. 2020.
Medication Comparisons
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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