Charcot Marie Tooth Disease Type 2j C1843153
Charcot-Marie-Tooth Disease Type 2J is an inherited nerve condition caused by MPZ gene mutations, affecting the myelin sheath of peripheral nerves. It often leads to progressive weakness, sensory loss, and may involve additional symptoms such as hearing loss.
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
Comprehensive Physical Therapy Program
A structured physical therapy program focusing on muscle strengthening, range of motion exercises, and gait training to maintain function and prevent contractures. Therapists may incorporate balance training and low-impact aerobic exercises tailored to individual tolerance levels.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Orthopedic Intervention for Foot Deformities
Surgical correction of foot deformities such as pes cavus or hammertoes may be recommended when conservative measures fail to provide adequate pain relief or mobility. Procedures aim to improve foot alignment, reduce calluses, and enhance balance during walking.
Additional treatment options
Assistive Device Use and Home Modifications
Implementation of ankle-foot orthoses (AFOs), walking aids, and home modifications such as grab bars and ramps to enhance safety and independence. Proper footwear selection with supportive shoes can help prevent ulcers and falls.
lifestyleNeuropathic Pain Management
Pharmacological management of neuropathic pain using appropriate medications that may include certain anticonvulsants, antidepressants, or other agents proven effective for nerve pain. Treatment is individualized based on pain characteristics and comorbidities.
medicationRegular Neurological and Functional Assessment
Ongoing monitoring of disease progression through regular neurological examinations, functional assessments, and potential electrodiagnostic studies. Early detection of changes allows for timely intervention adjustments.
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 2j C1843153?
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, Sagnelli A, Pisciotta C. Clinical practice guidelines for Charcot-Marie-Tooth disease and related disorders. Neurology. 2022.
Bird TD, Latest update on inherited neuropathies. Neuromuscular Disorders. 2021.
Shy ME, Garcia CA, Smith EC. A longitudinal study of Charcot-Marie-Tooth disease type 2J progression. Ann Neurol. 2020.
Vinciotti V, Manganelli F, Gemelli C. Molecular genetics of axonal forms of Charcot-Marie-Tooth disease. J Peripher Nerv Syst. 2019.
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 25, 2026. · Read our editorial policy