Charcot Marie Tooth Disease Type 4k C4225246
A hereditary neuropathy linked to SURF1 gene changes. It causes progressive nerve damage with weakness and sensory loss. Treatment focuses on supportive care and rehabilitation.
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 muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Foot drop
(neurologic)Sensory loss in distal extremities
(neurologic)Scoliosis
(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.
Neuromuscular Rehabilitation Program
Specialized physical therapy designed to address progressive muscle weakness and sensory deficits characteristic of CMT4K. Treatment focuses on preserving functional abilities, preventing contractures, and optimizing gait patterns through targeted exercises.
Comprehensive Disease Progression Assessment
Regular monitoring of disease progression through clinical examinations, functional scoring systems, and specialized testing. Monitoring helps guide treatment decisions and anticipate future care needs.
Additional treatment options
Corrective Orthopedic Procedures
Surgical correction of musculoskeletal deformities including foot and ankle procedures to improve stability and walking. Surgical planning should consider the progressive nature of the disease and timing of interventions.
surgicalAdaptive Equipment and Home Modifications
Implementation of environmental modifications and adaptive equipment to enhance safety and independence at home. Includes grab bars, ramps, adaptive kitchen tools, and mobility aids tailored to individual needs.
lifestylePsychological Support and Counseling
Psychological counseling and support services to address the emotional impact of living with a progressive neuromuscular disorder. Includes coping strategies, family education, and connection to support networks.
psychologicalWhen 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 4k C4225246?
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 hereditary neuropathies. Neurology. 2022.
Bird TD, Burns J. Charcot-Marie-Tooth disease subtypes and genetic testing considerations. J Peripher Nerv Syst. 2020.
Kashihara K, Nakagawa M, Li D. Gene therapy approaches for demyelinating CMT forms. Ann Neurol. 2021.
Abramowicz B, Szigeti K, Inoue K. Update on CMT4K pathophysiology and management strategies. Mol Genet Genomic Med. 2019.
Medication Comparisons
Compare medications used to treat Charcot Marie Tooth Disease Type 4k C4225246. 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 20, 2026. · Read our editorial policy