Charcot Marie Tooth Disease Type 4b2 With Early Onset Glaucoma C1858279
A hereditary nerve disorder with muscle weakness plus early-onset glaucoma. Multidisciplinary care addresses both neurological and eye symptoms.
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.
Warning signs - seek immediate care
Early-onset glaucoma
Distal muscle weakness
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Decreased deep tendon reflexes
(neurologic)Cognitive impairment
(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 tailored physical therapy regimen focusing on muscle strengthening, range of motion exercises, and gait training to maintain motor function and prevent contractures. Therapy is typically conducted 2-3 times weekly with home exercise programs.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Intervention and Assistive Devices
Custom orthotics, ankle-foot braces, and specialized footwear to support foot drop, improve stability, and prevent falls. Regular reassessment is needed as deformity progresses.
Additional treatment options
Corrective Foot Surgery
Surgical correction of cavovarus foot deformities including tendon transfers, osteotomies, and joint fusions to improve ambulation and reduce pain when conservative measures fail.
surgicalGlaucoma Management and Ophthalmology Follow-up
Regular intraocular pressure monitoring, visual field testing, and targeted glaucoma treatment including medicated eye drops to prevent optic nerve damage in early-onset glaucoma associated with this subtype.
monitoringNeuropathic Pain Management
Pharmacological management of neuropathic pain using first-line agents such as gabapentinoids or tricyclic antidepressants, tailored to patient age and comorbidities. Regular reassessment of efficacy and side effects.
medicationWhen 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 4b2 With Early Onset Glaucoma C1858279?
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. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol. 2017.
England JD, Gronseth GS, Franklin G, et al. Practice Parameter: Evaluation of distal symmetric polyneuropathy. Neurology. 2009.
Bolino A, Serova M, Pozzoli U, et al. Myotubularin-related proteins in Charcot-Marie-Tooth disease type 4B. Neuromuscular Disorders. 2012.
Hattori A, Koike F, Matsuoka K, et al. Genetic basis of hereditary peripheral neuropathies. J Hum Genet. 2021.
Medication Comparisons
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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