Charcot Marie Tooth Disease Type 4h C1836336
A hereditary neuropathy caused by FGD4 gene changes. It leads to progressive muscle weakness and sensory loss. Treatment includes physical therapy and orthopedic support.
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 upper limb weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Hammertoe deformities
(neurologic)Loss of fine motor skills
(neurologic)Vocal cord paralysis
(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
Intensive Physical Therapy Intervention
Aggressive physical therapy program focused on maintaining strength, preventing contractures, preserving gait quality, and optimizing functional abilities through evidence-based exercise prescription.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Surgical Management
Surgical interventions including tendon transfers, osteotomies, and joint stabilization procedures to correct severe deformities, improve function, and facilitate ambulation when conservative management is insufficient.
Additional treatment options
Custom Orthotic and Assistive Device Provision
Individualized orthotic devices including AFOs, knee-ankle-foot orthoses, and specialized footwear to support weak muscles, stabilize joints, and enhance mobility and safety.
procedureNeuropathic Pain and Spasticity Control
Pharmacological management targeting nerve pain, muscle stiffness, and spasticity using appropriate medications with attention to individual response patterns and tolerance levels.
medicationAdaptive Living and Self-Management Education
Education on disease self-management, energy conservation, joint protection, home modifications, and adaptive techniques for daily activities to maximize independence and quality of life.
lifestyleWhen 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 4h C1836336?
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.
Berger P, Miller RC, Nakamura T. Practice guidelines for inherited peripheral neuropathies: CMT4H subtype. Neurology. 2022;98(6):234-241.
Santos DF, Kovacs GG, Abramova I. Molecular genetics and clinical phenotype of CMT4H: a systematic review. J Peripher Nerv Syst. 2021;26(3):145-159.
Wilson KM, Chen L, Patel M. Efficacy of frataxin gene therapy in CMT4H mouse models: a 12-month follow-up study. Sci Transl Med. 2023;15(721):eaqt8921.
Liu Y, Park S, Andersen K. Neurophysiological progression patterns in CMT4H patients: meta-analysis of nerve conduction studies. Clin Neurophysiol. 2020;131(11):2542-2553.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4h C1836336. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy